Canonical Allele Identifier: CA369856283

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 3075325
• ClinVar RCV Id: RCV004015851
• dbSNP Id: rs1801088876
• MyVariant Identifiers: chr7:g.150647367C>G (hg19) ; chr7:g.150950279C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950279C>G , CM000669.2:g.150950279C>G	GRCh38
NC_000007.13:g.150647367C>G , CM000669.1:g.150647367C>G	GRCh37
NC_000007.12:g.150278300C>G	NCBI36
NG_008916.1:g.32648G>C , LRG_288:g.32648G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1585G>C
ENST00000684241.1:n.3120G>C
ENST00000262186.10:c.2287G>C MANE Select	ENSP00000262186.5:p.Ala763Pro
ENST00000330883.9:c.1267G>C	ENSP00000328531.4:p.Ala423Pro
ENST00000262186.9:c.2287G>C	ENSP00000262186.5:p.Ala763Pro
ENST00000330883.8:c.1267G>C	ENSP00000328531.4:p.Ala423Pro
ENST00000430723.4:c.1939G>C	ENSP00000387657.4:p.Ala647Pro
ENST00000461280.1:n.1574G>C
ENST00000473610.5:n.1919G>C
ENST00000532957.5:n.2510G>C
NM_000238.3:c.2287G>C , LRG_288t1:c.2287G>C	NP_000229.1:p.Ala763Pro
NM_001204798.1:c.1267G>C	NP_001191727.1:p.Ala423Pro
NM_172056.2:c.2287G>C , LRG_288t2:c.2287G>C	NP_742053.1:p.Ala763Pro
NM_172057.2:c.1267G>C , LRG_288t3:c.1267G>C	NP_742054.1:p.Ala423Pro
XM_011516185.1:c.1987G>C	XP_011514487.1:p.Ala663Pro
XM_011516186.1:c.2287G>C	XP_011514488.1:p.Ala763Pro
XM_011516185.2:c.1987G>C	XP_011514487.1:p.Ala663Pro
XM_011516186.3:c.2287G>C	XP_011514488.1:p.Ala763Pro
XM_017012195.1:c.2137G>C	XP_016867684.1:p.Ala713Pro
XM_017012196.1:c.2110G>C	XP_016867685.1:p.Ala704Pro
NM_000238.4:c.2287G>C MANE Select	NP_000229.1:p.Ala763Pro
NM_001204798.2:c.1267G>C	NP_001191727.1:p.Ala423Pro
NM_172057.3:c.1267G>C	NP_742054.1:p.Ala423Pro