Canonical Allele Identifier: CA169091581

Gene: KCNH2

Linked Data

• dbSNP Id: rs972709500
• MyVariant Identifiers: chr7:g.150674341C>T (hg19) ; chr7:g.150977253C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977253C>T , CM000669.2:g.150977253C>T	GRCh38
NC_000007.13:g.150674341C>T , CM000669.1:g.150674341C>T	GRCh37
NC_000007.12:g.150305274C>T	NCBI36
NG_008916.1:g.5674G>A , LRG_288:g.5674G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.76+585G>A MANE Select	ENSP00000262186.5:n.76+585G>A
ENST00000262186.9:c.76+585G>A	ENSP00000262186.5:n.76+585G>A
ENST00000430723.4:c.-102+585G>A	ENSP00000387657.4:n.-102+585G>A
ENST00000532957.5:n.299+585G>A
NM_000238.3:c.76+585G>A , LRG_288t1:c.76+585G>A	NP_000229.1:n.76+585G>A
NM_172056.2:c.76+585G>A , LRG_288t2:c.76+585G>A	NP_742053.1:n.76+585G>A
XM_011516186.1:c.76+585G>A	XP_011514488.1:n.76+585G>A
XM_011516186.3:c.76+585G>A	XP_011514488.1:n.76+585G>A
NM_000238.4:c.76+585G>A MANE Select	NP_000229.1:n.76+585G>A