Canonical Allele Identifier: CA040990

Gene: KCNH2

Linked Data

• dbSNP Id: rs776378236
• ExAC: 7:150654575 A / C
• gnomAD v2: 7-150654575-A-C
• gnomAD v4: 7-150957487-A-C
• MyVariant Identifiers: chr7:g.150654575A>C (hg19) ; chr7:g.150957487A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957487A>C , CM000669.2:g.150957487A>C	GRCh38
NC_000007.13:g.150654575A>C , CM000669.1:g.150654575A>C	GRCh37
NC_000007.12:g.150285508A>C	NCBI36
NG_008916.1:g.25440T>G , LRG_288:g.25440T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1765T>G
ENST00000262186.10:c.932T>G MANE Select	ENSP00000262186.5:p.Leu311Arg
ENST00000262186.9:c.932T>G	ENSP00000262186.5:p.Leu311Arg
ENST00000430723.4:c.584T>G	ENSP00000387657.4:p.Leu195Arg
ENST00000532957.5:n.1155T>G
NM_000238.3:c.932T>G , LRG_288t1:c.932T>G	NP_000229.1:p.Leu311Arg
NM_172056.2:c.932T>G , LRG_288t2:c.932T>G	NP_742053.1:p.Leu311Arg
XM_011516185.1:c.632T>G	XP_011514487.1:p.Leu211Arg
XM_011516186.1:c.932T>G	XP_011514488.1:p.Leu311Arg
XM_011516185.2:c.632T>G	XP_011514487.1:p.Leu211Arg
XM_011516186.3:c.932T>G	XP_011514488.1:p.Leu311Arg
XM_017012195.1:c.782T>G	XP_016867684.1:p.Leu261Arg
XM_017012196.1:c.755T>G	XP_016867685.1:p.Leu252Arg
NM_000238.4:c.932T>G MANE Select	NP_000229.1:p.Leu311Arg