Canonical Allele Identifier: CA005852

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67315
• ClinVar RCV Id: RCV000058034 ; RCV000181823 ; RCV000678941 ; RCV000763171 ; RCV000781486
• dbSNP Id: rs199472957
• MyVariant Identifiers: chr7:g.150648595T>C (hg19) ; chr7:g.150951507T>C (hg38)
• PubMed: PMID:9544837 ; PMID:11468227 ; PMID:11668638 ; PMID:11854117 ; PMID:16432067 ; PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951507T>C , CM000669.2:g.150951507T>C	GRCh38
NC_000007.13:g.150648595T>C , CM000669.1:g.150648595T>C	GRCh37
NC_000007.12:g.150279528T>C	NCBI36
NG_008916.1:g.31420A>G , LRG_288:g.31420A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1184A>G
ENST00000683359.1:n.10A>G
ENST00000684241.1:n.2719A>G
ENST00000262186.10:c.1886A>G MANE Select	ENSP00000262186.5:p.Asn629Ser
ENST00000330883.9:c.866A>G	ENSP00000328531.4:p.Asn289Ser
ENST00000262186.9:c.1886A>G	ENSP00000262186.5:p.Asn629Ser
ENST00000330883.8:c.866A>G	ENSP00000328531.4:p.Asn289Ser
ENST00000430723.4:c.1538A>G	ENSP00000387657.4:p.Asn513Ser
ENST00000461280.1:n.1173A>G
ENST00000473610.5:n.1191A>G
ENST00000532957.5:n.2109A>G
NM_000238.3:c.1886A>G , LRG_288t1:c.1886A>G	NP_000229.1:p.Asn629Ser
NM_001204798.1:c.866A>G	NP_001191727.1:p.Asn289Ser
NM_172056.2:c.1886A>G , LRG_288t2:c.1886A>G	NP_742053.1:p.Asn629Ser
NM_172057.2:c.866A>G , LRG_288t3:c.866A>G	NP_742054.1:p.Asn289Ser
XM_011516185.1:c.1586A>G	XP_011514487.1:p.Asn529Ser
XM_011516186.1:c.1886A>G	XP_011514488.1:p.Asn629Ser
XM_011516185.2:c.1586A>G	XP_011514487.1:p.Asn529Ser
XM_011516186.3:c.1886A>G	XP_011514488.1:p.Asn629Ser
XM_017012195.1:c.1736A>G	XP_016867684.1:p.Asn579Ser
XM_017012196.1:c.1709A>G	XP_016867685.1:p.Asn570Ser
NM_000238.4:c.1886A>G MANE Select	NP_000229.1:p.Asn629Ser
NM_001204798.2:c.866A>G	NP_001191727.1:p.Asn289Ser
NM_172057.3:c.866A>G	NP_742054.1:p.Asn289Ser