Canonical Allele Identifier: CA004581

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67195
• ClinVar RCV Id: RCV000057903 ; RCV002247456
• dbSNP Id: rs199473490
• MyVariant Identifiers: chr7:g.150671966C>A (hg19) ; chr7:g.150974878C>A (hg38)
• PubMed: PMID:10973849 ; PMID:11854117 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974878C>A , CM000669.2:g.150974878C>A	GRCh38
NC_000007.13:g.150671966C>A , CM000669.1:g.150671966C>A	GRCh37
NC_000007.12:g.150302899C>A	NCBI36
NG_008916.1:g.8049G>T , LRG_288:g.8049G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.140G>T MANE Select	ENSP00000262186.5:p.Gly47Val
ENST00000262186.9:c.140G>T	ENSP00000262186.5:p.Gly47Val
ENST00000430723.4:c.-38G>T	ENSP00000387657.4:n.-38G>T
ENST00000532957.5:n.363G>T
NM_000238.3:c.140G>T , LRG_288t1:c.140G>T	NP_000229.1:p.Gly47Val
NM_172056.2:c.140G>T , LRG_288t2:c.140G>T	NP_742053.1:p.Gly47Val
XM_011516186.1:c.140G>T	XP_011514488.1:p.Gly47Val
XM_011516186.3:c.140G>T	XP_011514488.1:p.Gly47Val
XM_017012196.1:c.-38G>T	XP_016867685.1:n.-38G>T
NM_000238.4:c.140G>T MANE Select	NP_000229.1:p.Gly47Val