Canonical Allele Identifier: CA006934
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67411
ClinVar RCV Id: RCV000058135 RCV003162444
dbSNP Id: rs199473494
MyVariant Identifiers: chr7:g.150671852G>A (hg19) chr7:g.150974764G>A (hg38)
PubMed: PMID:15840476 PMID:19716085 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974764G>A , CM000669.2:g.150974764G>A GRCh38
NC_000007.13:g.150671852G>A , CM000669.1:g.150671852G>A GRCh37
NC_000007.12:g.150302785G>A NCBI36
NG_008916.1:g.8163C>T , LRG_288:g.8163C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.254C>T MANE Select ENSP00000262186.5:p.Ala85Val
ENST00000262186.9:c.254C>T ENSP00000262186.5:p.Ala85Val
ENST00000430723.4:c.77C>T ENSP00000387657.4:p.Ala26Val
ENST00000532957.5:n.477C>T
NM_000238.3:c.254C>T , LRG_288t1:c.254C>T NP_000229.1:p.Ala85Val
NM_172056.2:c.254C>T , LRG_288t2:c.254C>T NP_742053.1:p.Ala85Val
XM_011516186.1:c.254C>T XP_011514488.1:p.Ala85Val
XM_011516186.3:c.254C>T XP_011514488.1:p.Ala85Val
XM_017012196.1:c.77C>T XP_016867685.1:p.Ala26Val
NM_000238.4:c.254C>T MANE Select NP_000229.1:p.Ala85Val
Search 100 bp 5'
Search 100 bp 3'