Canonical Allele Identifier: CA1108707410

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801324046
• gnomAD v3: 7-150955175-C-G
• gnomAD v4: 7-150955175-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955175C>G , CM000669.2:g.150955175C>G	GRCh38
NC_000007.13:g.150652263C>G , CM000669.1:g.150652263C>G	GRCh37
NC_000007.12:g.150283196C>G	NCBI36
NG_008916.1:g.27752G>C , LRG_288:g.27752G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.426+221G>C
ENST00000684241.1:n.1961+2116G>C
ENST00000262186.10:c.1128+2116G>C MANE Select	ENSP00000262186.5:n.1128+2116G>C
ENST00000330883.9:c.108+221G>C	ENSP00000328531.4:n.108+221G>C
ENST00000262186.9:c.1128+2116G>C	ENSP00000262186.5:n.1128+2116G>C
ENST00000330883.8:c.108+221G>C	ENSP00000328531.4:n.108+221G>C
ENST00000430723.4:c.780+2116G>C	ENSP00000387657.4:n.780+2116G>C
ENST00000461280.1:n.415+221G>C
ENST00000473610.5:n.433+221G>C
ENST00000532957.5:n.1351+2116G>C
NM_000238.3:c.1128+2116G>C , LRG_288t1:c.1128+2116G>C	NP_000229.1:n.1128+2116G>C
NM_001204798.1:c.108+221G>C	NP_001191727.1:n.108+221G>C
NM_172056.2:c.1128+2116G>C , LRG_288t2:c.1128+2116G>C	NP_742053.1:n.1128+2116G>C
NM_172057.2:c.108+221G>C , LRG_288t3:c.108+221G>C	NP_742054.1:n.108+221G>C
XM_011516185.1:c.828+2116G>C	XP_011514487.1:n.828+2116G>C
XM_011516186.1:c.1128+2116G>C	XP_011514488.1:n.1128+2116G>C
XM_011516185.2:c.828+2116G>C	XP_011514487.1:n.828+2116G>C
XM_011516186.3:c.1128+2116G>C	XP_011514488.1:n.1128+2116G>C
XM_017012195.1:c.978+2116G>C	XP_016867684.1:n.978+2116G>C
XM_017012196.1:c.951+2116G>C	XP_016867685.1:n.951+2116G>C
NM_000238.4:c.1128+2116G>C MANE Select	NP_000229.1:n.1128+2116G>C
NM_001204798.2:c.108+221G>C	NP_001191727.1:n.108+221G>C
NM_172057.3:c.108+221G>C	NP_742054.1:n.108+221G>C