Canonical Allele Identifier: CA005235

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67247
• ClinVar RCV Id: RCV000057958 ; RCV000436135 ; RCV000556890 ; RCV004017367
• dbSNP Id: rs199472928
• MyVariant Identifiers: chr7:g.150648770T>C (hg19) ; chr7:g.150951682T>C (hg38)
• PubMed: PMID:16414944 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951682T>C , CM000669.2:g.150951682T>C	GRCh38
NC_000007.13:g.150648770T>C , CM000669.1:g.150648770T>C	GRCh37
NC_000007.12:g.150279703T>C	NCBI36
NG_008916.1:g.31245A>G , LRG_288:g.31245A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1009A>G
ENST00000684241.1:n.2544A>G
ENST00000262186.10:c.1711A>G MANE Select	ENSP00000262186.5:p.Ile571Val
ENST00000330883.9:c.691A>G	ENSP00000328531.4:p.Ile231Val
ENST00000262186.9:c.1711A>G	ENSP00000262186.5:p.Ile571Val
ENST00000330883.8:c.691A>G	ENSP00000328531.4:p.Ile231Val
ENST00000430723.4:c.1363A>G	ENSP00000387657.4:p.Ile455Val
ENST00000461280.1:n.998A>G
ENST00000473610.5:n.1016A>G
ENST00000532957.5:n.1934A>G
NM_000238.3:c.1711A>G , LRG_288t1:c.1711A>G	NP_000229.1:p.Ile571Val
NM_001204798.1:c.691A>G	NP_001191727.1:p.Ile231Val
NM_172056.2:c.1711A>G , LRG_288t2:c.1711A>G	NP_742053.1:p.Ile571Val
NM_172057.2:c.691A>G , LRG_288t3:c.691A>G	NP_742054.1:p.Ile231Val
XM_011516185.1:c.1411A>G	XP_011514487.1:p.Ile471Val
XM_011516186.1:c.1711A>G	XP_011514488.1:p.Ile571Val
XM_011516185.2:c.1411A>G	XP_011514487.1:p.Ile471Val
XM_011516186.3:c.1711A>G	XP_011514488.1:p.Ile571Val
XM_017012195.1:c.1561A>G	XP_016867684.1:p.Ile521Val
XM_017012196.1:c.1534A>G	XP_016867685.1:p.Ile512Val
NM_000238.4:c.1711A>G MANE Select	NP_000229.1:p.Ile571Val
NM_001204798.2:c.691A>G	NP_001191727.1:p.Ile231Val
NM_172057.3:c.691A>G	NP_742054.1:p.Ile231Val