Canonical Allele Identifier: CA369853610
Gene: KCNH2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.150948446T>C
GRCh37 chr7:g.150645534T>C
Revel Score:
ENST00000330883 0.564
ENST00000392968 0.564
ENST00000262186 (MANE Select) 0.564
gnomAD v2:
7:150645534 T / C
gnomAD v3:
7:150948446 T / C
gnomAD v4:
chr7-150948446-T-C
Joint Max Group AF 0.00001691 (AFR)
Genomes Max Group AF 0.00002746 (AFR)
ClinVar RCV:
RCV003592254
ClinVar Variation:
2773427
dbSNP:
1805123
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948446T>C , CM000669.2:g.150948446T>C GRCh38
NC_000007.13:g.150645534T>C , CM000669.1:g.150645534T>C GRCh37
NC_000007.12:g.150276467T>C NCBI36
NG_008916.1:g.34481A>G , LRG_288:g.34481A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3523A>G
ENST00000262186.10:c.2690A>G MANE Select ENSP00000262186.5:p.Lys897Arg
ENST00000330883.9:c.1670A>G ENSP00000328531.4:p.Lys557Arg
ENST00000262186.9:c.2690A>G ENSP00000262186.5:p.Lys897Arg
ENST00000330883.8:c.1670A>G ENSP00000328531.4:p.Lys557Arg
NM_000238.3:c.2690A>G , LRG_288t1:c.2690A>G NP_000229.1:p.Lys897Arg
NM_172057.2:c.1670A>G , LRG_288t3:c.1670A>G NP_742054.1:p.Lys557Arg
XM_011516185.1:c.2390A>G XP_011514487.1:p.Lys797Arg
XM_011516186.1:c.2690A>G XP_011514488.1:p.Lys897Arg
XM_011516185.2:c.2390A>G XP_011514487.1:p.Lys797Arg
XM_011516186.3:c.2690A>G XP_011514488.1:p.Lys897Arg
XM_017012195.1:c.2540A>G XP_016867684.1:p.Lys847Arg
XM_017012196.1:c.2513A>G XP_016867685.1:p.Lys838Arg
NM_000238.4:c.2690A>G MANE Select NP_000229.1:p.Lys897Arg
NM_172057.3:c.1670A>G NP_742054.1:p.Lys557Arg
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