Canonical Allele Identifier: CA369860706

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150955411-G-T
• MyVariant Identifiers: chr7:g.150652499G>T (hg19) ; chr7:g.150955411G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955411G>T , CM000669.2:g.150955411G>T	GRCh38
NC_000007.13:g.150652499G>T , CM000669.1:g.150652499G>T	GRCh37
NC_000007.12:g.150283432G>T	NCBI36
NG_008916.1:g.27516C>A , LRG_288:g.27516C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.411C>A
ENST00000684241.1:n.1961+1880C>A
ENST00000262186.10:c.1128+1880C>A MANE Select	ENSP00000262186.5:n.1128+1880C>A
ENST00000330883.9:c.93C>A	ENSP00000328531.4:p.Ser31Arg
ENST00000262186.9:c.1128+1880C>A	ENSP00000262186.5:n.1128+1880C>A
ENST00000330883.8:c.93C>A	ENSP00000328531.4:p.Ser31Arg
ENST00000430723.4:c.780+1880C>A	ENSP00000387657.4:n.780+1880C>A
ENST00000461280.1:n.400C>A
ENST00000473610.5:n.418C>A
ENST00000532957.5:n.1351+1880C>A
NM_000238.3:c.1128+1880C>A , LRG_288t1:c.1128+1880C>A	NP_000229.1:n.1128+1880C>A
NM_001204798.1:c.93C>A	NP_001191727.1:p.Ser31Arg
NM_172056.2:c.1128+1880C>A , LRG_288t2:c.1128+1880C>A	NP_742053.1:n.1128+1880C>A
NM_172057.2:c.93C>A , LRG_288t3:c.93C>A	NP_742054.1:p.Ser31Arg
XM_011516185.1:c.828+1880C>A	XP_011514487.1:n.828+1880C>A
XM_011516186.1:c.1128+1880C>A	XP_011514488.1:n.1128+1880C>A
XM_011516185.2:c.828+1880C>A	XP_011514487.1:n.828+1880C>A
XM_011516186.3:c.1128+1880C>A	XP_011514488.1:n.1128+1880C>A
XM_017012195.1:c.978+1880C>A	XP_016867684.1:n.978+1880C>A
XM_017012196.1:c.951+1880C>A	XP_016867685.1:n.951+1880C>A
NM_000238.4:c.1128+1880C>A MANE Select	NP_000229.1:n.1128+1880C>A
NM_001204798.2:c.93C>A	NP_001191727.1:p.Ser31Arg
NM_172057.3:c.93C>A	NP_742054.1:p.Ser31Arg