Canonical Allele Identifier: CA005420

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 14437
• ClinVar RCV Id: RCV000015518 ; RCV000057980
• dbSNP Id: rs104894021
• MyVariant Identifiers: chr7:g.150648717G>T (hg19) ; chr7:g.150951629G>T (hg38)
• PubMed: PMID:12925462 ; PMID:14676148 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951629G>T , CM000669.2:g.150951629G>T	GRCh38
NC_000007.13:g.150648717G>T , CM000669.1:g.150648717G>T	GRCh37
NC_000007.12:g.150279650G>T	NCBI36
NG_008916.1:g.31298C>A , LRG_288:g.31298C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1062C>A
ENST00000684241.1:n.2597C>A
ENST00000262186.10:c.1764C>A MANE Select	ENSP00000262186.5:p.Asn588Lys
ENST00000330883.9:c.744C>A	ENSP00000328531.4:p.Asn248Lys
ENST00000262186.9:c.1764C>A	ENSP00000262186.5:p.Asn588Lys
ENST00000330883.8:c.744C>A	ENSP00000328531.4:p.Asn248Lys
ENST00000430723.4:c.1416C>A	ENSP00000387657.4:p.Asn472Lys
ENST00000461280.1:n.1051C>A
ENST00000473610.5:n.1069C>A
ENST00000532957.5:n.1987C>A
NM_000238.3:c.1764C>A , LRG_288t1:c.1764C>A	NP_000229.1:p.Asn588Lys
NM_001204798.1:c.744C>A	NP_001191727.1:p.Asn248Lys
NM_172056.2:c.1764C>A , LRG_288t2:c.1764C>A	NP_742053.1:p.Asn588Lys
NM_172057.2:c.744C>A , LRG_288t3:c.744C>A	NP_742054.1:p.Asn248Lys
XM_011516185.1:c.1464C>A	XP_011514487.1:p.Asn488Lys
XM_011516186.1:c.1764C>A	XP_011514488.1:p.Asn588Lys
XM_011516185.2:c.1464C>A	XP_011514487.1:p.Asn488Lys
XM_011516186.3:c.1764C>A	XP_011514488.1:p.Asn588Lys
XM_017012195.1:c.1614C>A	XP_016867684.1:p.Asn538Lys
XM_017012196.1:c.1587C>A	XP_016867685.1:p.Asn529Lys
NM_000238.4:c.1764C>A MANE Select	NP_000229.1:p.Asn588Lys
NM_001204798.2:c.744C>A	NP_001191727.1:p.Asn248Lys
NM_172057.3:c.744C>A	NP_742054.1:p.Asn248Lys