Canonical Allele Identifier: CA369852936

Gene: KCNH2

Linked Data

• dbSNP Id: rs1369598624
• gnomAD v2: 7-150644563-C-T
• gnomAD v3: 7-150947475-C-T
• gnomAD v4: 7-150947475-C-T
• MyVariant Identifiers: chr7:g.150644563C>T (hg19) ; chr7:g.150947475C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947475C>T , CM000669.2:g.150947475C>T	GRCh38
NC_000007.13:g.150644563C>T , CM000669.1:g.150644563C>T	GRCh37
NC_000007.12:g.150275496C>T	NCBI36
NG_008916.1:g.35452G>A , LRG_288:g.35452G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3838G>A
ENST00000262186.10:c.3005G>A MANE Select	ENSP00000262186.5:p.Gly1002Glu
ENST00000330883.9:c.1985G>A	ENSP00000328531.4:p.Gly662Glu
ENST00000262186.9:c.3005G>A	ENSP00000262186.5:p.Gly1002Glu
ENST00000330883.8:c.1985G>A	ENSP00000328531.4:p.Gly662Glu
NM_000238.3:c.3005G>A , LRG_288t1:c.3005G>A	NP_000229.1:p.Gly1002Glu
NM_172057.2:c.1985G>A , LRG_288t3:c.1985G>A	NP_742054.1:p.Gly662Glu
XM_011516185.1:c.2705G>A	XP_011514487.1:p.Gly902Glu
XM_011516186.1:c.*85G>A	XP_011514488.1:n.*85G>A
XM_011516185.2:c.2705G>A	XP_011514487.1:p.Gly902Glu
XM_011516186.3:c.*85G>A	XP_011514488.1:n.*85G>A
XM_017012195.1:c.2855G>A	XP_016867684.1:p.Gly952Glu
XM_017012196.1:c.2828G>A	XP_016867685.1:p.Gly943Glu
NM_000238.4:c.3005G>A MANE Select	NP_000229.1:p.Gly1002Glu
NM_172057.3:c.1985G>A	NP_742054.1:p.Gly662Glu