Canonical Allele Identifier: CA005711

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67300
• ClinVar RCV Id: RCV000058018
• dbSNP Id: rs199472949
• MyVariant Identifiers: chr7:g.150648618G>C (hg19) ; chr7:g.150951530G>C (hg38)
• PubMed: PMID:16414944 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951530G>C , CM000669.2:g.150951530G>C	GRCh38
NC_000007.13:g.150648618G>C , CM000669.1:g.150648618G>C	GRCh37
NC_000007.12:g.150279551G>C	NCBI36
NG_008916.1:g.31397C>G , LRG_288:g.31397C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1161C>G
ENST00000684241.1:n.2696C>G
ENST00000262186.10:c.1863C>G MANE Select	ENSP00000262186.5:p.Ser621Arg
ENST00000330883.9:c.843C>G	ENSP00000328531.4:p.Ser281Arg
ENST00000262186.9:c.1863C>G	ENSP00000262186.5:p.Ser621Arg
ENST00000330883.8:c.843C>G	ENSP00000328531.4:p.Ser281Arg
ENST00000430723.4:c.1515C>G	ENSP00000387657.4:p.Ser505Arg
ENST00000461280.1:n.1150C>G
ENST00000473610.5:n.1168C>G
ENST00000532957.5:n.2086C>G
NM_000238.3:c.1863C>G , LRG_288t1:c.1863C>G	NP_000229.1:p.Ser621Arg
NM_001204798.1:c.843C>G	NP_001191727.1:p.Ser281Arg
NM_172056.2:c.1863C>G , LRG_288t2:c.1863C>G	NP_742053.1:p.Ser621Arg
NM_172057.2:c.843C>G , LRG_288t3:c.843C>G	NP_742054.1:p.Ser281Arg
XM_011516185.1:c.1563C>G	XP_011514487.1:p.Ser521Arg
XM_011516186.1:c.1863C>G	XP_011514488.1:p.Ser621Arg
XM_011516185.2:c.1563C>G	XP_011514487.1:p.Ser521Arg
XM_011516186.3:c.1863C>G	XP_011514488.1:p.Ser621Arg
XM_017012195.1:c.1713C>G	XP_016867684.1:p.Ser571Arg
XM_017012196.1:c.1686C>G	XP_016867685.1:p.Ser562Arg
NM_000238.4:c.1863C>G MANE Select	NP_000229.1:p.Ser621Arg
NM_001204798.2:c.843C>G	NP_001191727.1:p.Ser281Arg
NM_172057.3:c.843C>G	NP_742054.1:p.Ser281Arg