Canonical Allele Identifier: CA072360

Linked Data

ClinVar Variation Id: 410463
dbSNP Id: rs759092293
gnomAD v2: 2-48033738-C-G
gnomAD v3: 2-47806599-C-G
gnomAD v4: 2-47806599-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806599C>G , CM000664.2:g.47806599C>G GRCh38
NC_000002.11:g.48033738C>G , CM000664.1:g.48033738C>G GRCh37
NC_000002.10:g.47887242C>G NCBI36
NG_007111.1:g.28453C>G , LRG_219:g.28453C>G
NG_008397.1:g.104077G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3652C>G (MSH6) ENSP00000406248.2:p.His1218Asp
ENST00000420813.6:c.3652C>G (MSH6) ENSP00000390382.2:p.His1218Asp
ENST00000455383.6:c.3652C>G (MSH6) ENSP00000397484.2:p.His1218Asp
ENST00000700004.2:c.3565C>G (MSH6) ENSP00000514752.2:p.His1189Asp
ENST00000699999.1:n.4623C>G (MSH6)
ENST00000700000.1:c.2383C>G (MSH6) ENSP00000514749.1:p.His795Asp
ENST00000700002.1:c.3955C>G (MSH6) ENSP00000514750.1:p.His1319Asp
ENST00000700003.1:c.1404C>G (MSH6) ENSP00000514751.1:n.1404C>G
ENST00000700004.1:c.2722C>G (MSH6) ENSP00000514752.1:p.His908Asp
ENST00000700005.1:n.2800C>G (MSH6)
ENST00000700006.1:n.5107C>G (MSH6)
ENST00000700007.1:n.2544C>G (MSH6)
ENST00000700008.1:n.2211C>G (MSH6)
ENST00000700009.1:n.2613C>G (MSH6)
ENST00000700010.1:n.1358C>G (MSH6)
ENST00000700011.1:n.3243C>G (MSH6)
ENST00000682451.1:n.4149G>C (FBXO11)
ENST00000684712.1:n.4411G>C (FBXO11)
ENST00000234420.11:c.3949C>G (MSH6) MANE Select ENSP00000234420.5:p.His1317Asp
ENST00000540021.6:c.3559C>G (MSH6) ENSP00000446475.1:p.His1187Asp
ENST00000652107.1:c.3652C>G (MSH6) ENSP00000498629.1:p.His1218Asp
ENST00000673637.1:c.3652C>G (MSH6) ENSP00000501310.1:p.His1218Asp
ENST00000234420.9:c.3949C>G (MSH6) ENSP00000234420.4:p.His1317Asp
ENST00000405808.5:c.169+1596G>C (FBXO11) ENSP00000385127.1:n.169+1596G>C
ENST00000434234.5:c.*124+1395G>C (FBXO11) ENSP00000402692.1:n.*124+1395G>C
ENST00000445503.5:c.*3296C>G (MSH6) ENSP00000405294.1:n.*3296C>G
ENST00000538136.1:c.3043C>G (MSH6) ENSP00000438580.1:p.His1015Asp
ENST00000540021.5:c.3559C>G (MSH6) ENSP00000446475.1:p.His1187Asp
ENST00000614496.4:c.3043C>G (MSH6) ENSP00000477844.1:p.His1015Asp
ENST00000622629.4:c.850C>G (MSH6) ENSP00000482078.1:p.His284Asp
NM_000179.2:c.3949C>G , LRG_219t1:c.3949C>G (MSH6) NP_000170.1:p.His1317Asp
NM_001281492.1:c.3559C>G (MSH6) NP_001268421.1:p.His1187Asp
NM_001281493.1:c.3043C>G (MSH6) NP_001268422.1:p.His1015Asp
NM_001281494.1:c.3043C>G (MSH6) NP_001268423.1:p.His1015Asp
XM_005264271.1:c.3652C>G (MSH6) XP_005264328.1:p.His1218Asp
XM_011532798.1:c.3766C>G (MSH6) XP_011531100.1:p.His1256Asp
XM_011532799.1:c.3652C>G (MSH6) XP_011531101.1:p.His1218Asp
XM_011532800.1:c.3652C>G (MSH6) XP_011531102.1:p.His1218Asp
XM_024452819.1:c.4042C>G (MSH6) XP_024308587.1:p.His1348Asp
XM_024452820.1:c.3859C>G (MSH6) XP_024308588.1:p.His1287Asp
XM_024452821.1:c.3745C>G (MSH6) XP_024308589.1:p.His1249Asp
XM_024452822.1:c.3136C>G (MSH6) XP_024308590.1:p.His1046Asp
NM_000179.3:c.3949C>G (MSH6) MANE Select NP_000170.1:p.His1317Asp
NM_001281492.2:c.3559C>G (MSH6) NP_001268421.1:p.His1187Asp
NM_001281493.2:c.3043C>G (MSH6) NP_001268422.1:p.His1015Asp
NM_001281494.2:c.3043C>G (MSH6) NP_001268423.1:p.His1015Asp