Canonical Allele Identifier: CA369865525
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 957483
ClinVar RCV Id: RCV001230469
dbSNP Id: rs1801933488

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974785G>A , CM000669.2:g.150974785G>A GRCh38
NC_000007.13:g.150671873G>A , CM000669.1:g.150671873G>A GRCh37
NC_000007.12:g.150302806G>A NCBI36
NG_008916.1:g.8142C>T , LRG_288:g.8142C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.233C>T MANE Select ENSP00000262186.5:p.Ala78Val
ENST00000262186.9:c.233C>T ENSP00000262186.5:p.Ala78Val
ENST00000430723.4:c.56C>T ENSP00000387657.4:p.Ala19Val
ENST00000532957.5:n.456C>T
NM_000238.3:c.233C>T , LRG_288t1:c.233C>T NP_000229.1:p.Ala78Val
NM_172056.2:c.233C>T , LRG_288t2:c.233C>T NP_742053.1:p.Ala78Val
XM_011516186.1:c.233C>T XP_011514488.1:p.Ala78Val
XM_011516186.3:c.233C>T XP_011514488.1:p.Ala78Val
XM_017012196.1:c.56C>T XP_016867685.1:p.Ala19Val
NM_000238.4:c.233C>T MANE Select NP_000229.1:p.Ala78Val