Canonical Allele Identifier: CA005294

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67254
• ClinVar RCV Id: RCV000057966 ; RCV000472868 ; RCV001582554
• dbSNP Id: rs199473413
• MyVariant Identifiers: chr7:g.150671934C>T (hg19) ; chr7:g.150974846C>T (hg38)
• PubMed: PMID:11222472 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974846C>T , CM000669.2:g.150974846C>T	GRCh38
NC_000007.13:g.150671934C>T , CM000669.1:g.150671934C>T	GRCh37
NC_000007.12:g.150302867C>T	NCBI36
NG_008916.1:g.8081G>A , LRG_288:g.8081G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.172G>A MANE Select	ENSP00000262186.5:p.Glu58Lys
ENST00000262186.9:c.172G>A	ENSP00000262186.5:p.Glu58Lys
ENST00000430723.4:c.-6G>A	ENSP00000387657.4:n.-6G>A
ENST00000532957.5:n.395G>A
NM_000238.3:c.172G>A , LRG_288t1:c.172G>A	NP_000229.1:p.Glu58Lys
NM_172056.2:c.172G>A , LRG_288t2:c.172G>A	NP_742053.1:p.Glu58Lys
XM_011516186.1:c.172G>A	XP_011514488.1:p.Glu58Lys
XM_011516186.3:c.172G>A	XP_011514488.1:p.Glu58Lys
XM_017012196.1:c.-6G>A	XP_016867685.1:n.-6G>A
NM_000238.4:c.172G>A MANE Select	NP_000229.1:p.Glu58Lys