Canonical Allele Identifier: CA369853510

Gene: KCNH2

Linked Data

• dbSNP Id: rs1321339892
• gnomAD v2: 7-150644934-C-T
• MyVariant Identifiers: chr7:g.150644934C>T (hg19) ; chr7:g.150947846C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947846C>T , CM000669.2:g.150947846C>T	GRCh38
NC_000007.13:g.150644934C>T , CM000669.1:g.150644934C>T	GRCh37
NC_000007.12:g.150275867C>T	NCBI36
NG_008916.1:g.35081G>A , LRG_288:g.35081G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3558G>A
ENST00000262186.10:c.2725G>A MANE Select	ENSP00000262186.5:p.Gly909Arg
ENST00000330883.9:c.1705G>A	ENSP00000328531.4:p.Gly569Arg
ENST00000262186.9:c.2725G>A	ENSP00000262186.5:p.Gly909Arg
ENST00000330883.8:c.1705G>A	ENSP00000328531.4:p.Gly569Arg
NM_000238.3:c.2725G>A , LRG_288t1:c.2725G>A	NP_000229.1:p.Gly909Arg
NM_172057.2:c.1705G>A , LRG_288t3:c.1705G>A	NP_742054.1:p.Gly569Arg
XM_011516185.1:c.2425G>A	XP_011514487.1:p.Gly809Arg
XM_011516186.1:c.2693-155G>A	XP_011514488.1:n.2693-155G>A
XM_011516185.2:c.2425G>A	XP_011514487.1:p.Gly809Arg
XM_011516186.3:c.2693-155G>A	XP_011514488.1:n.2693-155G>A
XM_017012195.1:c.2575G>A	XP_016867684.1:p.Gly859Arg
XM_017012196.1:c.2548G>A	XP_016867685.1:p.Gly850Arg
NM_000238.4:c.2725G>A MANE Select	NP_000229.1:p.Gly909Arg
NM_172057.3:c.1705G>A	NP_742054.1:p.Gly569Arg