Canonical Allele Identifier: CA035581

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 920587
• ClinVar RCV Id: RCV001493063 ; RCV001842774 ; RCV002436743
• dbSNP Id: rs374528441
• ExAC: 7:150644716 G / A
• gnomAD v2: 7-150644716-G-A
• gnomAD v3: 7-150947628-G-A
• gnomAD v4: 7-150947628-G-A
• COSMIC: COSM1449212
• MyVariant Identifiers: chr7:g.150644716G>A (hg19) ; chr7:g.150947628G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947628G>A , CM000669.2:g.150947628G>A	GRCh38
NC_000007.13:g.150644716G>A , CM000669.1:g.150644716G>A	GRCh37
NC_000007.12:g.150275649G>A	NCBI36
NG_008916.1:g.35299C>T , LRG_288:g.35299C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3776C>T
ENST00000262186.10:c.2943C>T MANE Select	ENSP00000262186.5:p.Ser981=
ENST00000330883.9:c.1923C>T	ENSP00000328531.4:p.Ser641=
ENST00000262186.9:c.2943C>T	ENSP00000262186.5:p.Ser981=
ENST00000330883.8:c.1923C>T	ENSP00000328531.4:p.Ser641=
NM_000238.3:c.2943C>T , LRG_288t1:c.2943C>T	NP_000229.1:p.Ser981=
NM_172057.2:c.1923C>T , LRG_288t3:c.1923C>T	NP_742054.1:p.Ser641=
XM_011516185.1:c.2643C>T	XP_011514487.1:p.Ser881=
XM_011516186.1:c.*23C>T	XP_011514488.1:n.*23C>T
XM_011516185.2:c.2643C>T	XP_011514487.1:p.Ser881=
XM_011516186.3:c.*23C>T	XP_011514488.1:n.*23C>T
XM_017012195.1:c.2793C>T	XP_016867684.1:p.Ser931=
XM_017012196.1:c.2766C>T	XP_016867685.1:p.Ser922=
NM_000238.4:c.2943C>T MANE Select	NP_000229.1:p.Ser981=
NM_172057.3:c.1923C>T	NP_742054.1:p.Ser641=