Canonical Allele Identifier: CA008126

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67482
• ClinVar RCV Id: RCV000058211 ; RCV001040354
• dbSNP Id: rs199472859
• MyVariant Identifiers: chr7:g.150656810A>G (hg19) ; chr7:g.150959722A>G (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959722A>G , CM000669.2:g.150959722A>G	GRCh38
NC_000007.13:g.150656810A>G , CM000669.1:g.150656810A>G	GRCh37
NC_000007.12:g.150287743A>G	NCBI36
NG_008916.1:g.23205T>C , LRG_288:g.23205T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1155T>C
ENST00000262186.10:c.322T>C MANE Select	ENSP00000262186.5:p.Cys108Arg
ENST00000262186.9:c.322T>C	ENSP00000262186.5:p.Cys108Arg
ENST00000430723.4:c.145T>C	ENSP00000387657.4:p.Cys49Arg
ENST00000532957.5:n.545T>C
NM_000238.3:c.322T>C , LRG_288t1:c.322T>C	NP_000229.1:p.Cys108Arg
NM_172056.2:c.322T>C , LRG_288t2:c.322T>C	NP_742053.1:p.Cys108Arg
XM_011516185.1:c.22T>C	XP_011514487.1:p.Cys8Arg
XM_011516186.1:c.322T>C	XP_011514488.1:p.Cys108Arg
XM_011516185.2:c.22T>C	XP_011514487.1:p.Cys8Arg
XM_011516186.3:c.322T>C	XP_011514488.1:p.Cys108Arg
XM_017012195.1:c.172T>C	XP_016867684.1:p.Cys58Arg
XM_017012196.1:c.145T>C	XP_016867685.1:p.Cys49Arg
NM_000238.4:c.322T>C MANE Select	NP_000229.1:p.Cys108Arg