Canonical Allele Identifier: CA16618409
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418245
ClinVar RCV Id: RCV000487402
dbSNP Id: rs1064793146

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951574T>A , CM000669.2:g.150951574T>A GRCh38
NC_000007.13:g.150648662T>A , CM000669.1:g.150648662T>A GRCh37
NC_000007.12:g.150279595T>A NCBI36
NG_008916.1:g.31353A>T , LRG_288:g.31353A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1117A>T
ENST00000684241.1:n.2652A>T
ENST00000262186.10:c.1819A>T MANE Select ENSP00000262186.5:p.Ile607Phe
ENST00000330883.9:c.799A>T ENSP00000328531.4:p.Ile267Phe
ENST00000262186.9:c.1819A>T ENSP00000262186.5:p.Ile607Phe
ENST00000330883.8:c.799A>T ENSP00000328531.4:p.Ile267Phe
ENST00000430723.4:c.1471A>T ENSP00000387657.4:p.Ile491Phe
ENST00000461280.1:n.1106A>T
ENST00000473610.5:n.1124A>T
ENST00000532957.5:n.2042A>T
NM_000238.3:c.1819A>T , LRG_288t1:c.1819A>T NP_000229.1:p.Ile607Phe
NM_001204798.1:c.799A>T NP_001191727.1:p.Ile267Phe
NM_172056.2:c.1819A>T , LRG_288t2:c.1819A>T NP_742053.1:p.Ile607Phe
NM_172057.2:c.799A>T , LRG_288t3:c.799A>T NP_742054.1:p.Ile267Phe
XM_011516185.1:c.1519A>T XP_011514487.1:p.Ile507Phe
XM_011516186.1:c.1819A>T XP_011514488.1:p.Ile607Phe
XM_011516185.2:c.1519A>T XP_011514487.1:p.Ile507Phe
XM_011516186.3:c.1819A>T XP_011514488.1:p.Ile607Phe
XM_017012195.1:c.1669A>T XP_016867684.1:p.Ile557Phe
XM_017012196.1:c.1642A>T XP_016867685.1:p.Ile548Phe
NM_000238.4:c.1819A>T MANE Select NP_000229.1:p.Ile607Phe
NM_001204798.2:c.799A>T NP_001191727.1:p.Ile267Phe
NM_172057.3:c.799A>T NP_742054.1:p.Ile267Phe