Canonical Allele Identifier: CA369861608

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150957385-C-T
• MyVariant Identifiers: chr7:g.150654473C>T (hg19) ; chr7:g.150957385C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957385C>T , CM000669.2:g.150957385C>T	GRCh38
NC_000007.13:g.150654473C>T , CM000669.1:g.150654473C>T	GRCh37
NC_000007.12:g.150285406C>T	NCBI36
NG_008916.1:g.25542G>A , LRG_288:g.25542G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1867G>A
ENST00000262186.10:c.1034G>A MANE Select	ENSP00000262186.5:p.Gly345Asp
ENST00000262186.9:c.1034G>A	ENSP00000262186.5:p.Gly345Asp
ENST00000430723.4:c.686G>A	ENSP00000387657.4:p.Gly229Asp
ENST00000532957.5:n.1257G>A
NM_000238.3:c.1034G>A , LRG_288t1:c.1034G>A	NP_000229.1:p.Gly345Asp
NM_172056.2:c.1034G>A , LRG_288t2:c.1034G>A	NP_742053.1:p.Gly345Asp
XM_011516185.1:c.734G>A	XP_011514487.1:p.Gly245Asp
XM_011516186.1:c.1034G>A	XP_011514488.1:p.Gly345Asp
XM_011516185.2:c.734G>A	XP_011514487.1:p.Gly245Asp
XM_011516186.3:c.1034G>A	XP_011514488.1:p.Gly345Asp
XM_017012195.1:c.884G>A	XP_016867684.1:p.Gly295Asp
XM_017012196.1:c.857G>A	XP_016867685.1:p.Gly286Asp
NM_000238.4:c.1034G>A MANE Select	NP_000229.1:p.Gly345Asp