Canonical Allele Identifier: CA369861913

Gene: KCNH2

Linked Data

• dbSNP Id: rs1175644510
• gnomAD v2: 7-150654576-G-C
• gnomAD v3: 7-150957488-G-C
• gnomAD v4: 7-150957488-G-C
• MyVariant Identifiers: chr7:g.150654576G>C (hg19) ; chr7:g.150957488G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957488G>C , CM000669.2:g.150957488G>C	GRCh38
NC_000007.13:g.150654576G>C , CM000669.1:g.150654576G>C	GRCh37
NC_000007.12:g.150285509G>C	NCBI36
NG_008916.1:g.25439C>G , LRG_288:g.25439C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1764C>G
ENST00000262186.10:c.931C>G MANE Select	ENSP00000262186.5:p.Leu311Val
ENST00000262186.9:c.931C>G	ENSP00000262186.5:p.Leu311Val
ENST00000430723.4:c.583C>G	ENSP00000387657.4:p.Leu195Val
ENST00000532957.5:n.1154C>G
NM_000238.3:c.931C>G , LRG_288t1:c.931C>G	NP_000229.1:p.Leu311Val
NM_172056.2:c.931C>G , LRG_288t2:c.931C>G	NP_742053.1:p.Leu311Val
XM_011516185.1:c.631C>G	XP_011514487.1:p.Leu211Val
XM_011516186.1:c.931C>G	XP_011514488.1:p.Leu311Val
XM_011516185.2:c.631C>G	XP_011514487.1:p.Leu211Val
XM_011516186.3:c.931C>G	XP_011514488.1:p.Leu311Val
XM_017012195.1:c.781C>G	XP_016867684.1:p.Leu261Val
XM_017012196.1:c.754C>G	XP_016867685.1:p.Leu252Val
NM_000238.4:c.931C>G MANE Select	NP_000229.1:p.Leu311Val