Canonical Allele Identifier: CA004657

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67202
• ClinVar RCV Id: RCV000057911
• dbSNP Id: rs28928905
• MyVariant Identifiers: chr7:g.150649602C>G (hg19) ; chr7:g.150952514C>G (hg38)
• PubMed: PMID:17560885 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952514C>G , CM000669.2:g.150952514C>G	GRCh38
NC_000007.13:g.150649602C>G , CM000669.1:g.150649602C>G	GRCh37
NC_000007.12:g.150280535C>G	NCBI36
NG_008916.1:g.30413G>C , LRG_288:g.30413G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.766G>C
ENST00000684116.1:n.361G>C
ENST00000684241.1:n.2301G>C
ENST00000262186.10:c.1468G>C MANE Select	ENSP00000262186.5:p.Ala490Pro
ENST00000330883.9:c.448G>C	ENSP00000328531.4:p.Ala150Pro
ENST00000262186.9:c.1468G>C	ENSP00000262186.5:p.Ala490Pro
ENST00000330883.8:c.448G>C	ENSP00000328531.4:p.Ala150Pro
ENST00000430723.4:c.1120G>C	ENSP00000387657.4:p.Ala374Pro
ENST00000461280.1:n.755G>C
ENST00000473610.5:n.773G>C
ENST00000532957.5:n.1691G>C
NM_000238.3:c.1468G>C , LRG_288t1:c.1468G>C	NP_000229.1:p.Ala490Pro
NM_001204798.1:c.448G>C	NP_001191727.1:p.Ala150Pro
NM_172056.2:c.1468G>C , LRG_288t2:c.1468G>C	NP_742053.1:p.Ala490Pro
NM_172057.2:c.448G>C , LRG_288t3:c.448G>C	NP_742054.1:p.Ala150Pro
XM_011516185.1:c.1168G>C	XP_011514487.1:p.Ala390Pro
XM_011516186.1:c.1468G>C	XP_011514488.1:p.Ala490Pro
XM_011516185.2:c.1168G>C	XP_011514487.1:p.Ala390Pro
XM_011516186.3:c.1468G>C	XP_011514488.1:p.Ala490Pro
XM_017012195.1:c.1318G>C	XP_016867684.1:p.Ala440Pro
XM_017012196.1:c.1291G>C	XP_016867685.1:p.Ala431Pro
NM_000238.4:c.1468G>C MANE Select	NP_000229.1:p.Ala490Pro
NM_001204798.2:c.448G>C	NP_001191727.1:p.Ala150Pro
NM_172057.3:c.448G>C	NP_742054.1:p.Ala150Pro