Canonical Allele Identifier: CA005546

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67281
• ClinVar RCV Id: RCV000057997 ; RCV000181821 ; RCV000205578 ; RCV002408563
• dbSNP Id: rs199473522
• MyVariant Identifiers: chr7:g.150648671C>T (hg19) ; chr7:g.150951583C>T (hg38)
• PubMed: PMID:10220144 ; PMID:10973849 ; PMID:11854117 ; PMID:12566525 ; PMID:14998624 ; PMID:15840476 ; PMID:17171344 ; PMID:18386051 ; PMID:18441445 ; PMID:19716085 ; PMID:19841300 ; PMID:22402334 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951583C>T , CM000669.2:g.150951583C>T	GRCh38
NC_000007.13:g.150648671C>T , CM000669.1:g.150648671C>T	GRCh37
NC_000007.12:g.150279604C>T	NCBI36
NG_008916.1:g.31344G>A , LRG_288:g.31344G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1108G>A
ENST00000684241.1:n.2643G>A
ENST00000262186.10:c.1810G>A MANE Select	ENSP00000262186.5:p.Gly604Ser
ENST00000330883.9:c.790G>A	ENSP00000328531.4:p.Gly264Ser
ENST00000262186.9:c.1810G>A	ENSP00000262186.5:p.Gly604Ser
ENST00000330883.8:c.790G>A	ENSP00000328531.4:p.Gly264Ser
ENST00000430723.4:c.1462G>A	ENSP00000387657.4:p.Gly488Ser
ENST00000461280.1:n.1097G>A
ENST00000473610.5:n.1115G>A
ENST00000532957.5:n.2033G>A
NM_000238.3:c.1810G>A , LRG_288t1:c.1810G>A	NP_000229.1:p.Gly604Ser
NM_001204798.1:c.790G>A	NP_001191727.1:p.Gly264Ser
NM_172056.2:c.1810G>A , LRG_288t2:c.1810G>A	NP_742053.1:p.Gly604Ser
NM_172057.2:c.790G>A , LRG_288t3:c.790G>A	NP_742054.1:p.Gly264Ser
XM_011516185.1:c.1510G>A	XP_011514487.1:p.Gly504Ser
XM_011516186.1:c.1810G>A	XP_011514488.1:p.Gly604Ser
XM_011516185.2:c.1510G>A	XP_011514487.1:p.Gly504Ser
XM_011516186.3:c.1810G>A	XP_011514488.1:p.Gly604Ser
XM_017012195.1:c.1660G>A	XP_016867684.1:p.Gly554Ser
XM_017012196.1:c.1633G>A	XP_016867685.1:p.Gly545Ser
NM_000238.4:c.1810G>A MANE Select	NP_000229.1:p.Gly604Ser
NM_001204798.2:c.790G>A	NP_001191727.1:p.Gly264Ser
NM_172057.3:c.790G>A	NP_742054.1:p.Gly264Ser