Canonical Allele Identifier: CA369852753

Gene: KCNH2

Linked Data

• dbSNP Id: rs1203246274
• gnomAD v4: 7-150947412-A-T
• MyVariant Identifiers: chr7:g.150644500A>T (hg19) ; chr7:g.150947412A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947412A>T , CM000669.2:g.150947412A>T	GRCh38
NC_000007.13:g.150644500A>T , CM000669.1:g.150644500A>T	GRCh37
NC_000007.12:g.150275433A>T	NCBI36
NG_008916.1:g.35515T>A , LRG_288:g.35515T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3901T>A
ENST00000262186.10:c.3068T>A MANE Select	ENSP00000262186.5:p.Leu1023His
ENST00000330883.9:c.2048T>A	ENSP00000328531.4:p.Leu683His
ENST00000262186.9:c.3068T>A	ENSP00000262186.5:p.Leu1023His
ENST00000330883.8:c.2048T>A	ENSP00000328531.4:p.Leu683His
NM_000238.3:c.3068T>A , LRG_288t1:c.3068T>A	NP_000229.1:p.Leu1023His
NM_172057.2:c.2048T>A , LRG_288t3:c.2048T>A	NP_742054.1:p.Leu683His
XM_011516185.1:c.2768T>A	XP_011514487.1:p.Leu923His
XM_011516185.2:c.2768T>A	XP_011514487.1:p.Leu923His
XM_017012195.1:c.2918T>A	XP_016867684.1:p.Leu973His
XM_017012196.1:c.2891T>A	XP_016867685.1:p.Leu964His
NM_000238.4:c.3068T>A MANE Select	NP_000229.1:p.Leu1023His
NM_172057.3:c.2048T>A	NP_742054.1:p.Leu683His