Canonical Allele Identifier: CA029325

Gene: KCNH2

Linked Data

• dbSNP Id: rs759081373
• ExAC: 7:150648755 G / T
• MyVariant Identifiers: chr7:g.150648755G>T (hg19) ; chr7:g.150951667G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951667G>T , CM000669.2:g.150951667G>T	GRCh38
NC_000007.13:g.150648755G>T , CM000669.1:g.150648755G>T	GRCh37
NC_000007.12:g.150279688G>T	NCBI36
NG_008916.1:g.31260C>A , LRG_288:g.31260C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1024C>A
ENST00000684241.1:n.2559C>A
ENST00000262186.10:c.1726C>A MANE Select	ENSP00000262186.5:p.Gln576Lys
ENST00000330883.9:c.706C>A	ENSP00000328531.4:p.Gln236Lys
ENST00000262186.9:c.1726C>A	ENSP00000262186.5:p.Gln576Lys
ENST00000330883.8:c.706C>A	ENSP00000328531.4:p.Gln236Lys
ENST00000430723.4:c.1378C>A	ENSP00000387657.4:p.Gln460Lys
ENST00000461280.1:n.1013C>A
ENST00000473610.5:n.1031C>A
ENST00000532957.5:n.1949C>A
NM_000238.3:c.1726C>A , LRG_288t1:c.1726C>A	NP_000229.1:p.Gln576Lys
NM_001204798.1:c.706C>A	NP_001191727.1:p.Gln236Lys
NM_172056.2:c.1726C>A , LRG_288t2:c.1726C>A	NP_742053.1:p.Gln576Lys
NM_172057.2:c.706C>A , LRG_288t3:c.706C>A	NP_742054.1:p.Gln236Lys
XM_011516185.1:c.1426C>A	XP_011514487.1:p.Gln476Lys
XM_011516186.1:c.1726C>A	XP_011514488.1:p.Gln576Lys
XM_011516185.2:c.1426C>A	XP_011514487.1:p.Gln476Lys
XM_011516186.3:c.1726C>A	XP_011514488.1:p.Gln576Lys
XM_017012195.1:c.1576C>A	XP_016867684.1:p.Gln526Lys
XM_017012196.1:c.1549C>A	XP_016867685.1:p.Gln517Lys
NM_000238.4:c.1726C>A MANE Select	NP_000229.1:p.Gln576Lys
NM_001204798.2:c.706C>A	NP_001191727.1:p.Gln236Lys
NM_172057.3:c.706C>A	NP_742054.1:p.Gln236Lys