Canonical Allele Identifier: CA027494

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1089051
• ClinVar RCV Id: RCV001407734
• dbSNP Id: rs375112881
• ExAC: 7:150649804 A / G
• gnomAD v2: 7-150649804-A-G
• gnomAD v3: 7-150952716-A-G
• gnomAD v4: 7-150952716-A-G
• MyVariant Identifiers: chr7:g.150649804A>G (hg19) ; chr7:g.150952716A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952716A>G , CM000669.2:g.150952716A>G	GRCh38
NC_000007.13:g.150649804A>G , CM000669.1:g.150649804A>G	GRCh37
NC_000007.12:g.150280737A>G	NCBI36
NG_008916.1:g.30211T>C , LRG_288:g.30211T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.564T>C
ENST00000684116.1:n.159T>C
ENST00000684241.1:n.2099T>C
ENST00000262186.10:c.1266T>C MANE Select	ENSP00000262186.5:p.Ala422=
ENST00000330883.9:c.246T>C	ENSP00000328531.4:p.Ala82=
ENST00000262186.9:c.1266T>C	ENSP00000262186.5:p.Ala422=
ENST00000330883.8:c.246T>C	ENSP00000328531.4:p.Ala82=
ENST00000430723.4:c.918T>C	ENSP00000387657.4:p.Ala306=
ENST00000461280.1:n.553T>C
ENST00000473610.5:n.571T>C
ENST00000532957.5:n.1489T>C
NM_000238.3:c.1266T>C , LRG_288t1:c.1266T>C	NP_000229.1:p.Ala422=
NM_001204798.1:c.246T>C	NP_001191727.1:p.Ala82=
NM_172056.2:c.1266T>C , LRG_288t2:c.1266T>C	NP_742053.1:p.Ala422=
NM_172057.2:c.246T>C , LRG_288t3:c.246T>C	NP_742054.1:p.Ala82=
XM_011516185.1:c.966T>C	XP_011514487.1:p.Ala322=
XM_011516186.1:c.1266T>C	XP_011514488.1:p.Ala422=
XM_011516185.2:c.966T>C	XP_011514487.1:p.Ala322=
XM_011516186.3:c.1266T>C	XP_011514488.1:p.Ala422=
XM_017012195.1:c.1116T>C	XP_016867684.1:p.Ala372=
XM_017012196.1:c.1089T>C	XP_016867685.1:p.Ala363=
NM_000238.4:c.1266T>C MANE Select	NP_000229.1:p.Ala422=
NM_001204798.2:c.246T>C	NP_001191727.1:p.Ala82=
NM_172057.3:c.246T>C	NP_742054.1:p.Ala82=