Canonical Allele Identifier: CA369862463

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958181-C-T
• COSMIC: COSM4646288 ; COSM4646289
• MyVariant Identifiers: chr7:g.150655269C>T (hg19) ; chr7:g.150958181C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958181C>T , CM000669.2:g.150958181C>T	GRCh38
NC_000007.13:g.150655269C>T , CM000669.1:g.150655269C>T	GRCh37
NC_000007.12:g.150286202C>T	NCBI36
NG_008916.1:g.24746G>A , LRG_288:g.24746G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1627G>A
ENST00000262186.10:c.794G>A MANE Select	ENSP00000262186.5:p.Cys265Tyr
ENST00000262186.9:c.794G>A	ENSP00000262186.5:p.Cys265Tyr
ENST00000430723.4:c.446G>A	ENSP00000387657.4:p.Cys149Tyr
ENST00000532957.5:n.1017G>A
NM_000238.3:c.794G>A , LRG_288t1:c.794G>A	NP_000229.1:p.Cys265Tyr
NM_172056.2:c.794G>A , LRG_288t2:c.794G>A	NP_742053.1:p.Cys265Tyr
XM_011516185.1:c.494G>A	XP_011514487.1:p.Cys165Tyr
XM_011516186.1:c.794G>A	XP_011514488.1:p.Cys265Tyr
XM_011516185.2:c.494G>A	XP_011514487.1:p.Cys165Tyr
XM_011516186.3:c.794G>A	XP_011514488.1:p.Cys265Tyr
XM_017012195.1:c.644G>A	XP_016867684.1:p.Cys215Tyr
XM_017012196.1:c.617G>A	XP_016867685.1:p.Cys206Tyr
NM_000238.4:c.794G>A MANE Select	NP_000229.1:p.Cys265Tyr