Canonical Allele Identifier: CA004270
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200544
ClinVar RCV Id: RCV000181924
dbSNP Id: rs794728407
MyVariant Identifiers: chr7:g.150671987G>A (hg19) chr7:g.150974899G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974899G>A , CM000669.2:g.150974899G>A GRCh38
NC_000007.13:g.150671987G>A , CM000669.1:g.150671987G>A GRCh37
NC_000007.12:g.150302920G>A NCBI36
NG_008916.1:g.8028C>T , LRG_288:g.8028C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.119C>T MANE Select ENSP00000262186.5:p.Ala40Val
ENST00000262186.9:c.119C>T ENSP00000262186.5:p.Ala40Val
ENST00000430723.4:c.-59C>T ENSP00000387657.4:n.-59C>T
ENST00000532957.5:n.342C>T
NM_000238.3:c.119C>T , LRG_288t1:c.119C>T NP_000229.1:p.Ala40Val
NM_172056.2:c.119C>T , LRG_288t2:c.119C>T NP_742053.1:p.Ala40Val
XM_011516186.1:c.119C>T XP_011514488.1:p.Ala40Val
XM_011516186.3:c.119C>T XP_011514488.1:p.Ala40Val
XM_017012196.1:c.-59C>T XP_016867685.1:n.-59C>T
NM_000238.4:c.119C>T MANE Select NP_000229.1:p.Ala40Val
Search 100 bp 5'
Search 100 bp 3'