Canonical Allele Identifier: CA039202

Gene: KCNH2

Linked Data

• dbSNP Id: rs758097373
• ExAC: 7:150656776 T / C
• gnomAD v2: 7-150656776-T-C
• gnomAD v4: 7-150959688-T-C
• MyVariant Identifiers: chr7:g.150656776T>C (hg19) ; chr7:g.150959688T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959688T>C , CM000669.2:g.150959688T>C	GRCh38
NC_000007.13:g.150656776T>C , CM000669.1:g.150656776T>C	GRCh37
NC_000007.12:g.150287709T>C	NCBI36
NG_008916.1:g.23239A>G , LRG_288:g.23239A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1189A>G
ENST00000262186.10:c.356A>G MANE Select	ENSP00000262186.5:p.Asp119Gly
ENST00000262186.9:c.356A>G	ENSP00000262186.5:p.Asp119Gly
ENST00000430723.4:c.179A>G	ENSP00000387657.4:p.Asp60Gly
ENST00000532957.5:n.579A>G
NM_000238.3:c.356A>G , LRG_288t1:c.356A>G	NP_000229.1:p.Asp119Gly
NM_172056.2:c.356A>G , LRG_288t2:c.356A>G	NP_742053.1:p.Asp119Gly
XM_011516185.1:c.56A>G	XP_011514487.1:p.Asp19Gly
XM_011516186.1:c.356A>G	XP_011514488.1:p.Asp119Gly
XM_011516185.2:c.56A>G	XP_011514487.1:p.Asp19Gly
XM_011516186.3:c.356A>G	XP_011514488.1:p.Asp119Gly
XM_017012195.1:c.206A>G	XP_016867684.1:p.Asp69Gly
XM_017012196.1:c.179A>G	XP_016867685.1:p.Asp60Gly
NM_000238.4:c.356A>G MANE Select	NP_000229.1:p.Asp119Gly