Canonical Allele Identifier: CA004929
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67222
dbSNP Id: rs199472917

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951784G>A , CM000669.2:g.150951784G>A GRCh38
NC_000007.13:g.150648872G>A , CM000669.1:g.150648872G>A GRCh37
NC_000007.12:g.150279805G>A NCBI36
NG_008916.1:g.31143C>T , LRG_288:g.31143C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.907C>T
ENST00000684116.1:n.502C>T
ENST00000684241.1:n.2442C>T
ENST00000262186.10:c.1609C>T MANE Select ENSP00000262186.5:p.Arg537Trp
ENST00000330883.9:c.589C>T ENSP00000328531.4:p.Arg197Trp
ENST00000262186.9:c.1609C>T ENSP00000262186.5:p.Arg537Trp
ENST00000330883.8:c.589C>T ENSP00000328531.4:p.Arg197Trp
ENST00000430723.4:c.1261C>T ENSP00000387657.4:p.Arg421Trp
ENST00000461280.1:n.896C>T
ENST00000473610.5:n.914C>T
ENST00000532957.5:n.1832C>T
NM_000238.3:c.1609C>T , LRG_288t1:c.1609C>T NP_000229.1:p.Arg537Trp
NM_001204798.1:c.589C>T NP_001191727.1:p.Arg197Trp
NM_172056.2:c.1609C>T , LRG_288t2:c.1609C>T NP_742053.1:p.Arg537Trp
NM_172057.2:c.589C>T , LRG_288t3:c.589C>T NP_742054.1:p.Arg197Trp
XM_011516185.1:c.1309C>T XP_011514487.1:p.Arg437Trp
XM_011516186.1:c.1609C>T XP_011514488.1:p.Arg537Trp
XM_011516185.2:c.1309C>T XP_011514487.1:p.Arg437Trp
XM_011516186.3:c.1609C>T XP_011514488.1:p.Arg537Trp
XM_017012195.1:c.1459C>T XP_016867684.1:p.Arg487Trp
XM_017012196.1:c.1432C>T XP_016867685.1:p.Arg478Trp
NM_000238.4:c.1609C>T MANE Select NP_000229.1:p.Arg537Trp
NM_001204798.2:c.589C>T NP_001191727.1:p.Arg197Trp
NM_172057.3:c.589C>T NP_742054.1:p.Arg197Trp