UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150947372_150953685dup | CA2580614280 | KCNH2 | n.1962-831_3942dup c.1129-831_3109dup c.109-831_2089dup c.829-831_2809dup c.979-831_2959dup c.952-831_2932dup | |
| 7 | g.150948964_150949161del | CA2573141856 | KCNH2 | n.3232-108_3321del c.2399-108_2488del c.1379-108_1468del c.2099-108_2188del c.2249-108_2338del c.2222-108_2311del | ClinVar dbSNP |
| 7 | g.150949038_150949041delinsTGTC | CA1752432094 | KCNH2 | n.3240_3243delinsGACA c.2407_2410delinsGACA (p.Asp803=) c.1387_1390delinsGACA (p.Asp463=) c.2107_2110delinsGACA (p.Asp703=) c.2257_2260delinsGACA (p.Asp753=) c.2230_2233delinsGACA (p.Asp744=) | |
| 7 | g.150949039_150949041del | CA916080386 | KCNH2 | n.3240_3242del c.2407_2409del (p.Asp803del) c.1387_1389del (p.Asp463del) c.2107_2109del (p.Asp703del) c.2257_2259del (p.Asp753del) c.2230_2232del (p.Asp744del) | ClinVar dbSNP |
| 7 | g.150949040T>A | CA369855383 | KCNH2 | n.3241A>T c.2408A>T (p.Asp803Val) c.1388A>T (p.Asp463Val) c.2108A>T (p.Asp703Val) c.2258A>T (p.Asp753Val) c.2231A>T (p.Asp744Val) | |
| 7 | g.150949040T>C | CA369855384 | KCNH2 | n.3241A>G c.2408A>G (p.Asp803Gly) c.1388A>G (p.Asp463Gly) c.2108A>G (p.Asp703Gly) c.2258A>G (p.Asp753Gly) c.2231A>G (p.Asp744Gly) | |
| 7 | g.150949040T>G | CA369855385 | KCNH2 | n.3241A>C c.2408A>C (p.Asp803Ala) c.1388A>C (p.Asp463Ala) c.2108A>C (p.Asp703Ala) c.2258A>C (p.Asp753Ala) c.2231A>C (p.Asp744Ala) | |
| 7 | g.150949041C>A | CA369855386 | KCNH2 | n.3240G>T c.2407G>T (p.Asp803Tyr) c.1387G>T (p.Asp463Tyr) c.2107G>T (p.Asp703Tyr) c.2257G>T (p.Asp753Tyr) c.2230G>T (p.Asp744Tyr) | |
| 7 | g.150949041C>G | CA369855387 | KCNH2 | n.3240G>C c.2407G>C (p.Asp803His) c.1387G>C (p.Asp463His) c.2107G>C (p.Asp703His) c.2257G>C (p.Asp753His) c.2230G>C (p.Asp744His) | |
| 7 | g.150949041C>T | CA369855388 | KCNH2 | n.3240G>A c.2407G>A (p.Asp803Asn) c.1387G>A (p.Asp463Asn) c.2107G>A (p.Asp703Asn) c.2257G>A (p.Asp753Asn) c.2230G>A (p.Asp744Asn) | COSMIC COSMIC |
| 7 | g.150949042A>C | CA369855389 | KCNH2 | n.3239T>G c.2406T>G (p.Asn802Lys) c.1386T>G (p.Asn462Lys) c.2106T>G (p.Asn702Lys) c.2256T>G (p.Asn752Lys) c.2229T>G (p.Asn743Lys) | |
| 7 | g.150949042A>G | CA458645220 | KCNH2 | n.3239T>C c.2406T>C (p.Asn802=) c.1386T>C (p.Asn462=) c.2106T>C (p.Asn702=) c.2256T>C (p.Asn752=) c.2229T>C (p.Asn743=) | |
| 7 | g.150949042A>T | CA369855390 | KCNH2 | n.3239T>A c.2406T>A (p.Asn802Lys) c.1386T>A (p.Asn462Lys) c.2106T>A (p.Asn702Lys) c.2256T>A (p.Asn752Lys) c.2229T>A (p.Asn743Lys) | |
| 7 | g.150949043T>A | CA369855391 | KCNH2 | n.3238A>T c.2405A>T (p.Asn802Ile) c.1385A>T (p.Asn462Ile) c.2105A>T (p.Asn702Ile) c.2255A>T (p.Asn752Ile) c.2228A>T (p.Asn743Ile) | |
| 7 | g.150949043T>C | CA337238 | KCNH2 | n.3238A>G c.2405A>G (p.Asn802Ser) c.1385A>G (p.Asn462Ser) c.2105A>G (p.Asn702Ser) c.2255A>G (p.Asn752Ser) c.2228A>G (p.Asn743Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150949043T>G | CA369855392 | KCNH2 | n.3238A>C c.2405A>C (p.Asn802Thr) c.1385A>C (p.Asn462Thr) c.2105A>C (p.Asn702Thr) c.2255A>C (p.Asn752Thr) c.2228A>C (p.Asn743Thr) | |
| 7 | g.150949043T= | CA1752432101 | KCNH2 | n.3238A= c.2405A= (p.Asn802=) c.1385A= (p.Asn462=) c.2105A= (p.Asn702=) c.2255A= (p.Asn752=) c.2228A= (p.Asn743=) | |
| 7 | g.150949044T>A | CA369855394 | KCNH2 | n.3237A>T c.2404A>T (p.Asn802Tyr) c.1384A>T (p.Asn462Tyr) c.2104A>T (p.Asn702Tyr) c.2254A>T (p.Asn752Tyr) c.2227A>T (p.Asn743Tyr) | |
| 7 | g.150949044T>C | CA169074939 | KCNH2 | n.3237A>G c.2404A>G (p.Asn802Asp) c.1384A>G (p.Asn462Asp) c.2104A>G (p.Asn702Asp) c.2254A>G (p.Asn752Asp) c.2227A>G (p.Asn743Asp) | dbSNP |
| 7 | g.150949044T>G | CA369855393 | KCNH2 | n.3237A>C c.2404A>C (p.Asn802His) c.1384A>C (p.Asn462His) c.2104A>C (p.Asn702His) c.2254A>C (p.Asn752His) c.2227A>C (p.Asn743His) | |
| 7 | g.150949044T= | CA1752432105 | KCNH2 | n.3237A= c.2404A= (p.Asn802=) c.1384A= (p.Asn462=) c.2104A= (p.Asn702=) c.2254A= (p.Asn752=) c.2227A= (p.Asn743=) | |
| 7 | g.150949045C>A | CA369855395 | KCNH2 | n.3236G>T c.2403G>T (p.Lys801Asn) c.1383G>T (p.Lys461Asn) c.2103G>T (p.Lys701Asn) c.2253G>T (p.Lys751Asn) c.2226G>T (p.Lys742Asn) | |
| 7 | g.150949045C>G | CA369855396 | KCNH2 | n.3236G>C c.2403G>C (p.Lys801Asn) c.1383G>C (p.Lys461Asn) c.2103G>C (p.Lys701Asn) c.2253G>C (p.Lys751Asn) c.2226G>C (p.Lys742Asn) | |
| 7 | g.150949045C>T | CA458645221 | KCNH2 | n.3236G>A c.2403G>A (p.Lys801=) c.1383G>A (p.Lys461=) c.2103G>A (p.Lys701=) c.2253G>A (p.Lys751=) c.2226G>A (p.Lys742=) | |
| 7 | g.150949046T>A | CA369855397 | KCNH2 | n.3235A>T c.2402A>T (p.Lys801Met) c.1382A>T (p.Lys461Met) c.2102A>T (p.Lys701Met) c.2252A>T (p.Lys751Met) c.2225A>T (p.Lys742Met) | |
| 7 | g.150949046T>C | CA369855399 | KCNH2 | n.3235A>G c.2402A>G (p.Lys801Arg) c.1382A>G (p.Lys461Arg) c.2102A>G (p.Lys701Arg) c.2252A>G (p.Lys751Arg) c.2225A>G (p.Lys742Arg) | |
| 7 | g.150949046T>G | CA369855398 | KCNH2 | n.3235A>C c.2402A>C (p.Lys801Thr) c.1382A>C (p.Lys461Thr) c.2102A>C (p.Lys701Thr) c.2252A>C (p.Lys751Thr) c.2225A>C (p.Lys742Thr) | |
| 7 | g.150949047T>A | CA369855400 | KCNH2 | n.3234A>T c.2401A>T (p.Lys801Ter) c.1381A>T (p.Lys461Ter) c.2101A>T (p.Lys701Ter) c.2251A>T (p.Lys751Ter) c.2224A>T (p.Lys742Ter) | |
| 7 | g.150949047T>C | CA369855401 | KCNH2 | n.3234A>G c.2401A>G (p.Lys801Glu) c.1381A>G (p.Lys461Glu) c.2101A>G (p.Lys701Glu) c.2251A>G (p.Lys751Glu) c.2224A>G (p.Lys742Glu) | |
| 7 | g.150949047T>G | CA369855402 | KCNH2 | n.3234A>C c.2401A>C (p.Lys801Gln) c.1381A>C (p.Lys461Gln) c.2101A>C (p.Lys701Gln) c.2251A>C (p.Lys751Gln) c.2224A>C (p.Lys742Gln) | |
| 7 | g.150949048C>A | CA458645222 | KCNH2 | n.3233G>T c.2400G>T (p.Gly800=) c.1380G>T (p.Gly460=) c.2100G>T (p.Gly700=) c.2250G>T (p.Gly750=) c.2223G>T (p.Gly741=) | |
| 7 | g.150949048C>G | CA458645223 | KCNH2 | n.3233G>C c.2400G>C (p.Gly800=) c.1380G>C (p.Gly460=) c.2100G>C (p.Gly700=) c.2250G>C (p.Gly750=) c.2223G>C (p.Gly741=) | |
| 7 | g.150949048C>T | CA458645224 | KCNH2 | n.3233G>A c.2400G>A (p.Gly800=) c.1380G>A (p.Gly460=) c.2100G>A (p.Gly700=) c.2250G>A (p.Gly750=) c.2223G>A (p.Gly741=) | |
| 7 | g.150949050del | CA2695208830 | KCNH2 | n.3233del c.2400del c.1380del c.2100del c.2250del c.2223del | |
| 7 | g.150949049C>A | CA369855403 | KCNH2 | n.3232G>T c.2399G>T (p.Gly800Val) c.1379G>T (p.Gly460Val) c.2099G>T (p.Gly700Val) c.2249G>T (p.Gly750Val) c.2222G>T (p.Gly741Val) | |
| 7 | g.150949049C= | CA1752432106 | KCNH2 | n.3232G= c.2399G= (p.Gly800=) c.1379G= (p.Gly460=) c.2099G= (p.Gly700=) c.2249G= (p.Gly750=) c.2222G= (p.Gly741=) | |
| 7 | g.150949049C>G | CA369855404 | KCNH2 | n.3232G>C c.2399G>C (p.Gly800Ala) c.1379G>C (p.Gly460Ala) c.2099G>C (p.Gly700Ala) c.2249G>C (p.Gly750Ala) c.2222G>C (p.Gly741Ala) | ClinVar |
| 7 | g.150949049C>T | CA006689 | KCNH2 | n.3232G>A c.2399G>A (p.Gly800Glu) c.1379G>A (p.Gly460Glu) c.2099G>A (p.Gly700Glu) c.2249G>A (p.Gly750Glu) c.2222G>A (p.Gly741Glu) | ClinVar dbSNP |
| 7 | g.150949050C>A | CA369855405 | KCNH2 | n.3232-1G>T c.2399-1G>T (n.2399-1G>T) c.1379-1G>T (n.1379-1G>T) c.2099-1G>T (n.2099-1G>T) c.2249-1G>T (n.2249-1G>T) c.2222-1G>T (n.2222-1G>T) | |
| 7 | g.150949050C>G | CA369855406 | KCNH2 | n.3232-1G>C c.2399-1G>C (n.2399-1G>C) c.1379-1G>C (n.1379-1G>C) c.2099-1G>C (n.2099-1G>C) c.2249-1G>C (n.2249-1G>C) c.2222-1G>C (n.2222-1G>C) | |
| 7 | g.150949050C>T | CA369855407 | KCNH2 | n.3232-1G>A c.2399-1G>A (n.2399-1G>A) c.1379-1G>A (n.1379-1G>A) c.2099-1G>A (n.2099-1G>A) c.2249-1G>A (n.2249-1G>A) c.2222-1G>A (n.2222-1G>A) | |
| 7 | g.150949051del | CA2695208831 | KCNH2 | n.3232-2del c.2399-2del (n.2399-2del) c.1379-2del (n.1379-2del) c.2099-2del (n.2099-2del) c.2249-2del (n.2249-2del) c.2222-2del (n.2222-2del) | |
| 7 | g.150949051T>A | CA369855408 | KCNH2 | n.3232-2A>T c.2399-2A>T (n.2399-2A>T) c.1379-2A>T (n.1379-2A>T) c.2099-2A>T (n.2099-2A>T) c.2249-2A>T (n.2249-2A>T) c.2222-2A>T (n.2222-2A>T) | |
| 7 | g.150949051T>C | CA369855409 | KCNH2 | n.3232-2A>G c.2399-2A>G (n.2399-2A>G) c.1379-2A>G (n.1379-2A>G) c.2099-2A>G (n.2099-2A>G) c.2249-2A>G (n.2249-2A>G) c.2222-2A>G (n.2222-2A>G) | ClinVar |
| 7 | g.150949051T>G | CA369855410 | KCNH2 | n.3232-2A>C c.2399-2A>C (n.2399-2A>C) c.1379-2A>C (n.1379-2A>C) c.2099-2A>C (n.2099-2A>C) c.2249-2A>C (n.2249-2A>C) c.2222-2A>C (n.2222-2A>C) | |
| 7 | g.150949052G>A | CA032475 | KCNH2 | n.3232-3C>T c.2399-3C>T (n.2399-3C>T) c.1379-3C>T (n.1379-3C>T) c.2099-3C>T (n.2099-3C>T) c.2249-3C>T (n.2249-3C>T) c.2222-3C>T (n.2222-3C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150949052G= | CA1752432107 | KCNH2 | n.3232-3C= c.2399-3C= (n.2399-3C=) c.1379-3C= (n.1379-3C=) c.2099-3C= (n.2099-3C=) c.2249-3C= (n.2249-3C=) c.2222-3C= (n.2222-3C=) | |
| 7 | g.150949053G>A | CA2579062720 | KCNH2 | n.3232-4C>T c.2399-4C>T (n.2399-4C>T) c.1379-4C>T (n.1379-4C>T) c.2099-4C>T (n.2099-4C>T) c.2249-4C>T (n.2249-4C>T) c.2222-4C>T (n.2222-4C>T) | gnomAD v4 |
| 7 | g.150949053G>C | CA645565633 | KCNH2 | n.3232-4C>G c.2399-4C>G (n.2399-4C>G) c.1379-4C>G (n.1379-4C>G) c.2099-4C>G (n.2099-4C>G) c.2249-4C>G (n.2249-4C>G) c.2222-4C>G (n.2222-4C>G) | COSMIC |
| 7 | g.150949053G= | CA1752432110 | KCNH2 | n.3232-4C= c.2399-4C= (n.2399-4C=) c.1379-4C= (n.1379-4C=) c.2099-4C= (n.2099-4C=) c.2249-4C= (n.2249-4C=) c.2222-4C= (n.2222-4C=) |