Canonical Allele Identifier: CA16618417

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 418597
• ClinVar RCV Id: RCV000484322 ; RCV001239959
• dbSNP Id: rs199472844
• MyVariant Identifiers: chr7:g.150671942G>T (hg19) ; chr7:g.150974854G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974854G>T , CM000669.2:g.150974854G>T	GRCh38
NC_000007.13:g.150671942G>T , CM000669.1:g.150671942G>T	GRCh37
NC_000007.12:g.150302875G>T	NCBI36
NG_008916.1:g.8073C>A , LRG_288:g.8073C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.164C>A MANE Select	ENSP00000262186.5:p.Ser55Ter
ENST00000262186.9:c.164C>A	ENSP00000262186.5:p.Ser55Ter
ENST00000430723.4:c.-14C>A	ENSP00000387657.4:n.-14C>A
ENST00000532957.5:n.387C>A
NM_000238.3:c.164C>A , LRG_288t1:c.164C>A	NP_000229.1:p.Ser55Ter
NM_172056.2:c.164C>A , LRG_288t2:c.164C>A	NP_742053.1:p.Ser55Ter
XM_011516186.1:c.164C>A	XP_011514488.1:p.Ser55Ter
XM_011516186.3:c.164C>A	XP_011514488.1:p.Ser55Ter
XM_017012196.1:c.-14C>A	XP_016867685.1:n.-14C>A
NM_000238.4:c.164C>A MANE Select	NP_000229.1:p.Ser55Ter