Canonical Allele Identifier: CA007478
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 67441
ClinVar RCV Id: RCV000058167
dbSNP Id: rs199472852

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974737A>C , CM000669.2:g.150974737A>C GRCh38
NC_000007.13:g.150671825A>C , CM000669.1:g.150671825A>C GRCh37
NC_000007.12:g.150302758A>C NCBI36
NG_008916.1:g.8190T>G , LRG_288:g.8190T>G

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.281T>G , LRG_288t1:c.281T>G NP_000229.1:p.Val94Gly
NM_172056.2:c.281T>G , LRG_288t2:c.281T>G NP_742053.1:p.Val94Gly
XM_011516186.1:c.281T>G XP_011514488.1:p.Val94Gly
XM_011516186.3:c.281T>G
XM_017012196.1:c.104T>G XP_016867685.1:p.Val35Gly
ENST00000262186.9:c.281T>G ENSP00000262186.5:p.Val94Gly
ENST00000430723.4:c.104T>G ENSP00000387657.4:p.Val35Gly
ENST00000532957.5:n.504T>G