Canonical Allele Identifier: CA026698

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 3070998
• ClinVar RCV Id: RCV004014500
• dbSNP Id: rs758083853
• ExAC: 7:150654469 G / C
• gnomAD v2: 7-150654469-G-C
• gnomAD v4: 7-150957381-G-C
• MyVariant Identifiers: chr7:g.150654469G>C (hg19) ; chr7:g.150957381G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957381G>C , CM000669.2:g.150957381G>C	GRCh38
NC_000007.13:g.150654469G>C , CM000669.1:g.150654469G>C	GRCh37
NC_000007.12:g.150285402G>C	NCBI36
NG_008916.1:g.25546C>G , LRG_288:g.25546C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1871C>G
ENST00000262186.10:c.1038C>G MANE Select	ENSP00000262186.5:p.Asp346Glu
ENST00000262186.9:c.1038C>G	ENSP00000262186.5:p.Asp346Glu
ENST00000430723.4:c.690C>G	ENSP00000387657.4:p.Asp230Glu
ENST00000532957.5:n.1261C>G
NM_000238.3:c.1038C>G , LRG_288t1:c.1038C>G	NP_000229.1:p.Asp346Glu
NM_172056.2:c.1038C>G , LRG_288t2:c.1038C>G	NP_742053.1:p.Asp346Glu
XM_011516185.1:c.738C>G	XP_011514487.1:p.Asp246Glu
XM_011516186.1:c.1038C>G	XP_011514488.1:p.Asp346Glu
XM_011516185.2:c.738C>G	XP_011514487.1:p.Asp246Glu
XM_011516186.3:c.1038C>G	XP_011514488.1:p.Asp346Glu
XM_017012195.1:c.888C>G	XP_016867684.1:p.Asp296Glu
XM_017012196.1:c.861C>G	XP_016867685.1:p.Asp287Glu
NM_000238.4:c.1038C>G MANE Select	NP_000229.1:p.Asp346Glu