Canonical Allele Identifier: CA004572

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 14421
• ClinVar RCV Id: RCV000015502 ; RCV000057902
• dbSNP Id: rs121912505
• MyVariant Identifiers: chr7:g.150649662T>C (hg19) ; chr7:g.150952574T>C (hg38)
• PubMed: PMID:7889573 ; PMID:16361248 ; PMID:16432067 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952574T>C , CM000669.2:g.150952574T>C	GRCh38
NC_000007.13:g.150649662T>C , CM000669.1:g.150649662T>C	GRCh37
NC_000007.12:g.150280595T>C	NCBI36
NG_008916.1:g.30353A>G , LRG_288:g.30353A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.706A>G
ENST00000684116.1:n.301A>G
ENST00000684241.1:n.2241A>G
ENST00000262186.10:c.1408A>G MANE Select	ENSP00000262186.5:p.Asn470Asp
ENST00000330883.9:c.388A>G	ENSP00000328531.4:p.Asn130Asp
ENST00000262186.9:c.1408A>G	ENSP00000262186.5:p.Asn470Asp
ENST00000330883.8:c.388A>G	ENSP00000328531.4:p.Asn130Asp
ENST00000430723.4:c.1060A>G	ENSP00000387657.4:p.Asn354Asp
ENST00000461280.1:n.695A>G
ENST00000473610.5:n.713A>G
ENST00000532957.5:n.1631A>G
NM_000238.3:c.1408A>G , LRG_288t1:c.1408A>G	NP_000229.1:p.Asn470Asp
NM_001204798.1:c.388A>G	NP_001191727.1:p.Asn130Asp
NM_172056.2:c.1408A>G , LRG_288t2:c.1408A>G	NP_742053.1:p.Asn470Asp
NM_172057.2:c.388A>G , LRG_288t3:c.388A>G	NP_742054.1:p.Asn130Asp
XM_011516185.1:c.1108A>G	XP_011514487.1:p.Asn370Asp
XM_011516186.1:c.1408A>G	XP_011514488.1:p.Asn470Asp
XM_011516185.2:c.1108A>G	XP_011514487.1:p.Asn370Asp
XM_011516186.3:c.1408A>G	XP_011514488.1:p.Asn470Asp
XM_017012195.1:c.1258A>G	XP_016867684.1:p.Asn420Asp
XM_017012196.1:c.1231A>G	XP_016867685.1:p.Asn411Asp
NM_000238.4:c.1408A>G MANE Select	NP_000229.1:p.Asn470Asp
NM_001204798.2:c.388A>G	NP_001191727.1:p.Asn130Asp
NM_172057.3:c.388A>G	NP_742054.1:p.Asn130Asp