Canonical Allele Identifier: CA279835

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 218093
• ClinVar RCV Id: RCV000202321
• dbSNP Id: rs863225288
• MyVariant Identifiers: chr7:g.150648695G>C (hg19) ; chr7:g.150951607G>C (hg38)
• PubMed: PMID:19926013

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951607G>C , CM000669.2:g.150951607G>C	GRCh38
NC_000007.13:g.150648695G>C , CM000669.1:g.150648695G>C	GRCh37
NC_000007.12:g.150279628G>C	NCBI36
NG_008916.1:g.31320C>G , LRG_288:g.31320C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1084C>G
ENST00000684241.1:n.2619C>G
ENST00000262186.10:c.1786C>G MANE Select	ENSP00000262186.5:p.Pro596Ala
ENST00000330883.9:c.766C>G	ENSP00000328531.4:p.Pro256Ala
ENST00000262186.9:c.1786C>G	ENSP00000262186.5:p.Pro596Ala
ENST00000330883.8:c.766C>G	ENSP00000328531.4:p.Pro256Ala
ENST00000430723.4:c.1438C>G	ENSP00000387657.4:p.Pro480Ala
ENST00000461280.1:n.1073C>G
ENST00000473610.5:n.1091C>G
ENST00000532957.5:n.2009C>G
NM_000238.3:c.1786C>G , LRG_288t1:c.1786C>G	NP_000229.1:p.Pro596Ala
NM_001204798.1:c.766C>G	NP_001191727.1:p.Pro256Ala
NM_172056.2:c.1786C>G , LRG_288t2:c.1786C>G	NP_742053.1:p.Pro596Ala
NM_172057.2:c.766C>G , LRG_288t3:c.766C>G	NP_742054.1:p.Pro256Ala
XM_011516185.1:c.1486C>G	XP_011514487.1:p.Pro496Ala
XM_011516186.1:c.1786C>G	XP_011514488.1:p.Pro596Ala
XM_011516185.2:c.1486C>G	XP_011514487.1:p.Pro496Ala
XM_011516186.3:c.1786C>G	XP_011514488.1:p.Pro596Ala
XM_017012195.1:c.1636C>G	XP_016867684.1:p.Pro546Ala
XM_017012196.1:c.1609C>G	XP_016867685.1:p.Pro537Ala
NM_000238.4:c.1786C>G MANE Select	NP_000229.1:p.Pro596Ala
NM_001204798.2:c.766C>G	NP_001191727.1:p.Pro256Ala
NM_172057.3:c.766C>G	NP_742054.1:p.Pro256Ala