Canonical Allele Identifier: CA041320

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1040723
• ClinVar RCV Id: RCV001344414 ; RCV002384471
• dbSNP Id: rs759079349
• ExAC: 7:150654531 G / A
• gnomAD v2: 7-150654531-G-A
• gnomAD v4: 7-150957443-G-A
• MyVariant Identifiers: chr7:g.150654531G>A (hg19) ; chr7:g.150957443G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957443G>A , CM000669.2:g.150957443G>A	GRCh38
NC_000007.13:g.150654531G>A , CM000669.1:g.150654531G>A	GRCh37
NC_000007.12:g.150285464G>A	NCBI36
NG_008916.1:g.25484C>T , LRG_288:g.25484C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1809C>T
ENST00000262186.10:c.976C>T MANE Select	ENSP00000262186.5:p.Arg326Cys
ENST00000262186.9:c.976C>T	ENSP00000262186.5:p.Arg326Cys
ENST00000430723.4:c.628C>T	ENSP00000387657.4:p.Arg210Cys
ENST00000532957.5:n.1199C>T
NM_000238.3:c.976C>T , LRG_288t1:c.976C>T	NP_000229.1:p.Arg326Cys
NM_172056.2:c.976C>T , LRG_288t2:c.976C>T	NP_742053.1:p.Arg326Cys
XM_011516185.1:c.676C>T	XP_011514487.1:p.Arg226Cys
XM_011516186.1:c.976C>T	XP_011514488.1:p.Arg326Cys
XM_011516185.2:c.676C>T	XP_011514487.1:p.Arg226Cys
XM_011516186.3:c.976C>T	XP_011514488.1:p.Arg326Cys
XM_017012195.1:c.826C>T	XP_016867684.1:p.Arg276Cys
XM_017012196.1:c.799C>T	XP_016867685.1:p.Arg267Cys
NM_000238.4:c.976C>T MANE Select	NP_000229.1:p.Arg326Cys