Canonical Allele Identifier: CA006383
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67379
dbSNP Id: rs199472990

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950312G>A , CM000669.2:g.150950312G>A GRCh38
NC_000007.13:g.150647400G>A , CM000669.1:g.150647400G>A GRCh37
NC_000007.12:g.150278333G>A NCBI36
NG_008916.1:g.32615C>T , LRG_288:g.32615C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1552C>T
ENST00000684241.1:n.3087C>T
ENST00000262186.10:c.2254C>T MANE Select ENSP00000262186.5:p.Arg752Trp
ENST00000330883.9:c.1234C>T ENSP00000328531.4:p.Arg412Trp
ENST00000262186.9:c.2254C>T ENSP00000262186.5:p.Arg752Trp
ENST00000330883.8:c.1234C>T ENSP00000328531.4:p.Arg412Trp
ENST00000430723.4:c.1906C>T ENSP00000387657.4:p.Arg636Trp
ENST00000461280.1:n.1541C>T
ENST00000473610.5:n.1886C>T
ENST00000532957.5:n.2477C>T
NM_000238.3:c.2254C>T , LRG_288t1:c.2254C>T NP_000229.1:p.Arg752Trp
NM_001204798.1:c.1234C>T NP_001191727.1:p.Arg412Trp
NM_172056.2:c.2254C>T , LRG_288t2:c.2254C>T NP_742053.1:p.Arg752Trp
NM_172057.2:c.1234C>T , LRG_288t3:c.1234C>T NP_742054.1:p.Arg412Trp
XM_011516185.1:c.1954C>T XP_011514487.1:p.Arg652Trp
XM_011516186.1:c.2254C>T XP_011514488.1:p.Arg752Trp
XM_011516185.2:c.1954C>T XP_011514487.1:p.Arg652Trp
XM_011516186.3:c.2254C>T XP_011514488.1:p.Arg752Trp
XM_017012195.1:c.2104C>T XP_016867684.1:p.Arg702Trp
XM_017012196.1:c.2077C>T XP_016867685.1:p.Arg693Trp
NM_000238.4:c.2254C>T MANE Select NP_000229.1:p.Arg752Trp
NM_001204798.2:c.1234C>T NP_001191727.1:p.Arg412Trp
NM_172057.3:c.1234C>T NP_742054.1:p.Arg412Trp