Canonical Allele Identifier: CA005898

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67322
• ClinVar RCV Id: RCV000058041
• dbSNP Id: rs199472960
• MyVariant Identifiers: chr7:g.150648584T>C (hg19) ; chr7:g.150951496T>C (hg38)
• PubMed: PMID:16155735 ; PMID:18593567 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951496T>C , CM000669.2:g.150951496T>C	GRCh38
NC_000007.13:g.150648584T>C , CM000669.1:g.150648584T>C	GRCh37
NC_000007.12:g.150279517T>C	NCBI36
NG_008916.1:g.31431A>G , LRG_288:g.31431A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1195A>G
ENST00000683359.1:n.21A>G
ENST00000684241.1:n.2730A>G
ENST00000262186.10:c.1897A>G MANE Select	ENSP00000262186.5:p.Asn633Asp
ENST00000330883.9:c.877A>G	ENSP00000328531.4:p.Asn293Asp
ENST00000262186.9:c.1897A>G	ENSP00000262186.5:p.Asn633Asp
ENST00000330883.8:c.877A>G	ENSP00000328531.4:p.Asn293Asp
ENST00000430723.4:c.1549A>G	ENSP00000387657.4:p.Asn517Asp
ENST00000461280.1:n.1184A>G
ENST00000473610.5:n.1202A>G
ENST00000532957.5:n.2120A>G
NM_000238.3:c.1897A>G , LRG_288t1:c.1897A>G	NP_000229.1:p.Asn633Asp
NM_001204798.1:c.877A>G	NP_001191727.1:p.Asn293Asp
NM_172056.2:c.1897A>G , LRG_288t2:c.1897A>G	NP_742053.1:p.Asn633Asp
NM_172057.2:c.877A>G , LRG_288t3:c.877A>G	NP_742054.1:p.Asn293Asp
XM_011516185.1:c.1597A>G	XP_011514487.1:p.Asn533Asp
XM_011516186.1:c.1897A>G	XP_011514488.1:p.Asn633Asp
XM_011516185.2:c.1597A>G	XP_011514487.1:p.Asn533Asp
XM_011516186.3:c.1897A>G	XP_011514488.1:p.Asn633Asp
XM_017012195.1:c.1747A>G	XP_016867684.1:p.Asn583Asp
XM_017012196.1:c.1720A>G	XP_016867685.1:p.Asn574Asp
NM_000238.4:c.1897A>G MANE Select	NP_000229.1:p.Asn633Asp
NM_001204798.2:c.877A>G	NP_001191727.1:p.Asn293Asp
NM_172057.3:c.877A>G	NP_742054.1:p.Asn293Asp