Canonical Allele Identifier: CA035523

Gene: KCNH2

Linked Data

• dbSNP Id: rs758587547
• ExAC: 7:150644723 T / C
• gnomAD v2: 7-150644723-T-C
• gnomAD v4: 7-150947635-T-C
• MyVariant Identifiers: chr7:g.150644723T>C (hg19) ; chr7:g.150947635T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947635T>C , CM000669.2:g.150947635T>C	GRCh38
NC_000007.13:g.150644723T>C , CM000669.1:g.150644723T>C	GRCh37
NC_000007.12:g.150275656T>C	NCBI36
NG_008916.1:g.35292A>G , LRG_288:g.35292A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3769A>G
ENST00000262186.10:c.2936A>G MANE Select	ENSP00000262186.5:p.Lys979Arg
ENST00000330883.9:c.1916A>G	ENSP00000328531.4:p.Lys639Arg
ENST00000262186.9:c.2936A>G	ENSP00000262186.5:p.Lys979Arg
ENST00000330883.8:c.1916A>G	ENSP00000328531.4:p.Lys639Arg
NM_000238.3:c.2936A>G , LRG_288t1:c.2936A>G	NP_000229.1:p.Lys979Arg
NM_172057.2:c.1916A>G , LRG_288t3:c.1916A>G	NP_742054.1:p.Lys639Arg
XM_011516185.1:c.2636A>G	XP_011514487.1:p.Lys879Arg
XM_011516186.1:c.*16A>G	XP_011514488.1:n.*16A>G
XM_011516185.2:c.2636A>G	XP_011514487.1:p.Lys879Arg
XM_011516186.3:c.*16A>G	XP_011514488.1:n.*16A>G
XM_017012195.1:c.2786A>G	XP_016867684.1:p.Lys929Arg
XM_017012196.1:c.2759A>G	XP_016867685.1:p.Lys920Arg
NM_000238.4:c.2936A>G MANE Select	NP_000229.1:p.Lys979Arg
NM_172057.3:c.1916A>G	NP_742054.1:p.Lys639Arg