Canonical Allele Identifier: CA369852874

Gene: KCNH2

Linked Data

• dbSNP Id: rs1236815945
• gnomAD v2: 7-150644537-C-T
• gnomAD v3: 7-150947449-C-T
• gnomAD v4: 7-150947449-C-T
• MyVariant Identifiers: chr7:g.150644537C>T (hg19) ; chr7:g.150947449C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947449C>T , CM000669.2:g.150947449C>T	GRCh38
NC_000007.13:g.150644537C>T , CM000669.1:g.150644537C>T	GRCh37
NC_000007.12:g.150275470C>T	NCBI36
NG_008916.1:g.35478G>A , LRG_288:g.35478G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3864G>A
ENST00000262186.10:c.3031G>A MANE Select	ENSP00000262186.5:p.Glu1011Lys
ENST00000330883.9:c.2011G>A	ENSP00000328531.4:p.Glu671Lys
ENST00000262186.9:c.3031G>A	ENSP00000262186.5:p.Glu1011Lys
ENST00000330883.8:c.2011G>A	ENSP00000328531.4:p.Glu671Lys
NM_000238.3:c.3031G>A , LRG_288t1:c.3031G>A	NP_000229.1:p.Glu1011Lys
NM_172057.2:c.2011G>A , LRG_288t3:c.2011G>A	NP_742054.1:p.Glu671Lys
XM_011516185.1:c.2731G>A	XP_011514487.1:p.Glu911Lys
XM_011516186.1:c.*111G>A	XP_011514488.1:n.*111G>A
XM_011516185.2:c.2731G>A	XP_011514487.1:p.Glu911Lys
XM_011516186.3:c.*111G>A	XP_011514488.1:n.*111G>A
XM_017012195.1:c.2881G>A	XP_016867684.1:p.Glu961Lys
XM_017012196.1:c.2854G>A	XP_016867685.1:p.Glu952Lys
NM_000238.4:c.3031G>A MANE Select	NP_000229.1:p.Glu1011Lys
NM_172057.3:c.2011G>A	NP_742054.1:p.Glu671Lys