Canonical Allele Identifier: CA005415

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67266
• ClinVar RCV Id: RCV000057979 ; RCV002280098 ; RCV001854197
• dbSNP Id: rs199473431
• MyVariant Identifiers: chr7:g.150648719T>C (hg19) ; chr7:g.150951631T>C (hg38)
• PubMed: PMID:9693036 ; PMID:15840476 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951631T>C , CM000669.2:g.150951631T>C	GRCh38
NC_000007.13:g.150648719T>C , CM000669.1:g.150648719T>C	GRCh37
NC_000007.12:g.150279652T>C	NCBI36
NG_008916.1:g.31296A>G , LRG_288:g.31296A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1060A>G
ENST00000684241.1:n.2595A>G
ENST00000262186.10:c.1762A>G MANE Select	ENSP00000262186.5:p.Asn588Asp
ENST00000330883.9:c.742A>G	ENSP00000328531.4:p.Asn248Asp
ENST00000262186.9:c.1762A>G	ENSP00000262186.5:p.Asn588Asp
ENST00000330883.8:c.742A>G	ENSP00000328531.4:p.Asn248Asp
ENST00000430723.4:c.1414A>G	ENSP00000387657.4:p.Asn472Asp
ENST00000461280.1:n.1049A>G
ENST00000473610.5:n.1067A>G
ENST00000532957.5:n.1985A>G
NM_000238.3:c.1762A>G , LRG_288t1:c.1762A>G	NP_000229.1:p.Asn588Asp
NM_001204798.1:c.742A>G	NP_001191727.1:p.Asn248Asp
NM_172056.2:c.1762A>G , LRG_288t2:c.1762A>G	NP_742053.1:p.Asn588Asp
NM_172057.2:c.742A>G , LRG_288t3:c.742A>G	NP_742054.1:p.Asn248Asp
XM_011516185.1:c.1462A>G	XP_011514487.1:p.Asn488Asp
XM_011516186.1:c.1762A>G	XP_011514488.1:p.Asn588Asp
XM_011516185.2:c.1462A>G	XP_011514487.1:p.Asn488Asp
XM_011516186.3:c.1762A>G	XP_011514488.1:p.Asn588Asp
XM_017012195.1:c.1612A>G	XP_016867684.1:p.Asn538Asp
XM_017012196.1:c.1585A>G	XP_016867685.1:p.Asn529Asp
NM_000238.4:c.1762A>G MANE Select	NP_000229.1:p.Asn588Asp
NM_001204798.2:c.742A>G	NP_001191727.1:p.Asn248Asp
NM_172057.3:c.742A>G	NP_742054.1:p.Asn248Asp