Canonical Allele Identifier: CA369862215

Gene: KCNH2

Linked Data

• dbSNP Id: rs1247786599
• gnomAD v4: 7-150958108-C-G
• MyVariant Identifiers: chr7:g.150655196C>G (hg19) ; chr7:g.150958108C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958108C>G , CM000669.2:g.150958108C>G	GRCh38
NC_000007.13:g.150655196C>G , CM000669.1:g.150655196C>G	GRCh37
NC_000007.12:g.150286129C>G	NCBI36
NG_008916.1:g.24819G>C , LRG_288:g.24819G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1700G>C
ENST00000262186.10:c.867G>C MANE Select	ENSP00000262186.5:p.Glu289Asp
ENST00000262186.9:c.867G>C	ENSP00000262186.5:p.Glu289Asp
ENST00000430723.4:c.519G>C	ENSP00000387657.4:p.Glu173Asp
ENST00000532957.5:n.1090G>C
NM_000238.3:c.867G>C , LRG_288t1:c.867G>C	NP_000229.1:p.Glu289Asp
NM_172056.2:c.867G>C , LRG_288t2:c.867G>C	NP_742053.1:p.Glu289Asp
XM_011516185.1:c.567G>C	XP_011514487.1:p.Glu189Asp
XM_011516186.1:c.867G>C	XP_011514488.1:p.Glu289Asp
XM_011516185.2:c.567G>C	XP_011514487.1:p.Glu189Asp
XM_011516186.3:c.867G>C	XP_011514488.1:p.Glu289Asp
XM_017012195.1:c.717G>C	XP_016867684.1:p.Glu239Asp
XM_017012196.1:c.690G>C	XP_016867685.1:p.Glu230Asp
NM_000238.4:c.867G>C MANE Select	NP_000229.1:p.Glu289Asp