Canonical Allele Identifier: CA007636

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200580
• ClinVar RCV Id: RCV000181946
• dbSNP Id: rs794728415
• MyVariant Identifiers: chr7:g.150671816G>C (hg19) ; chr7:g.150974728G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974728G>C , CM000669.2:g.150974728G>C	GRCh38
NC_000007.13:g.150671816G>C , CM000669.1:g.150671816G>C	GRCh37
NC_000007.12:g.150302749G>C	NCBI36
NG_008916.1:g.8199C>G , LRG_288:g.8199C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.290C>G MANE Select	ENSP00000262186.5:p.Ala97Gly
ENST00000262186.9:c.290C>G	ENSP00000262186.5:p.Ala97Gly
ENST00000430723.4:c.113C>G	ENSP00000387657.4:p.Ala38Gly
ENST00000532957.5:n.513C>G
NM_000238.3:c.290C>G , LRG_288t1:c.290C>G	NP_000229.1:p.Ala97Gly
NM_172056.2:c.290C>G , LRG_288t2:c.290C>G	NP_742053.1:p.Ala97Gly
XM_011516186.1:c.290C>G	XP_011514488.1:p.Ala97Gly
XM_011516186.3:c.290C>G	XP_011514488.1:p.Ala97Gly
XM_017012196.1:c.113C>G	XP_016867685.1:p.Ala38Gly
NM_000238.4:c.290C>G MANE Select	NP_000229.1:p.Ala97Gly