Canonical Allele Identifier: CA005586

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67285
• ClinVar RCV Id: RCV000058001
• dbSNP Id: rs199473523
• MyVariant Identifiers: chr7:g.150648665A>G (hg19) ; chr7:g.150951577A>G (hg38)
• PubMed: PMID:18441445 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951577A>G , CM000669.2:g.150951577A>G	GRCh38
NC_000007.13:g.150648665A>G , CM000669.1:g.150648665A>G	GRCh37
NC_000007.12:g.150279598A>G	NCBI36
NG_008916.1:g.31350T>C , LRG_288:g.31350T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1114T>C
ENST00000684241.1:n.2649T>C
ENST00000262186.10:c.1816T>C MANE Select	ENSP00000262186.5:p.Ser606Pro
ENST00000330883.9:c.796T>C	ENSP00000328531.4:p.Ser266Pro
ENST00000262186.9:c.1816T>C	ENSP00000262186.5:p.Ser606Pro
ENST00000330883.8:c.796T>C	ENSP00000328531.4:p.Ser266Pro
ENST00000430723.4:c.1468T>C	ENSP00000387657.4:p.Ser490Pro
ENST00000461280.1:n.1103T>C
ENST00000473610.5:n.1121T>C
ENST00000532957.5:n.2039T>C
NM_000238.3:c.1816T>C , LRG_288t1:c.1816T>C	NP_000229.1:p.Ser606Pro
NM_001204798.1:c.796T>C	NP_001191727.1:p.Ser266Pro
NM_172056.2:c.1816T>C , LRG_288t2:c.1816T>C	NP_742053.1:p.Ser606Pro
NM_172057.2:c.796T>C , LRG_288t3:c.796T>C	NP_742054.1:p.Ser266Pro
XM_011516185.1:c.1516T>C	XP_011514487.1:p.Ser506Pro
XM_011516186.1:c.1816T>C	XP_011514488.1:p.Ser606Pro
XM_011516185.2:c.1516T>C	XP_011514487.1:p.Ser506Pro
XM_011516186.3:c.1816T>C	XP_011514488.1:p.Ser606Pro
XM_017012195.1:c.1666T>C	XP_016867684.1:p.Ser556Pro
XM_017012196.1:c.1639T>C	XP_016867685.1:p.Ser547Pro
NM_000238.4:c.1816T>C MANE Select	NP_000229.1:p.Ser606Pro
NM_001204798.2:c.796T>C	NP_001191727.1:p.Ser266Pro
NM_172057.3:c.796T>C	NP_742054.1:p.Ser266Pro