Canonical Allele Identifier: CA007666

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67454
• ClinVar RCV Id: RCV000058181 ; RCV000621297 ; RCV001002378 ; RCV001086448 ; RCV001841734
• dbSNP Id: rs76649554
• ExAC: 7:150644718 T / C
• gnomAD v2: 7-150644718-T-C
• gnomAD v3: 7-150947630-T-C
• gnomAD v4: 7-150947630-T-C
• MyVariant Identifiers: chr7:g.150644718T>C (hg19) ; chr7:g.150947630T>C (hg38)
• PubMed: PMID:19841300 ; PMID:22581653 ; PMID:22949429 ; PMID:23861362 ; PMID:25351510 ; PMID:26746457

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947630T>C , CM000669.2:g.150947630T>C	GRCh38
NC_000007.13:g.150644718T>C , CM000669.1:g.150644718T>C	GRCh37
NC_000007.12:g.150275651T>C	NCBI36
NG_008916.1:g.35297A>G , LRG_288:g.35297A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3774A>G
ENST00000262186.10:c.2941A>G MANE Select	ENSP00000262186.5:p.Ser981Gly
ENST00000330883.9:c.1921A>G	ENSP00000328531.4:p.Ser641Gly
ENST00000262186.9:c.2941A>G	ENSP00000262186.5:p.Ser981Gly
ENST00000330883.8:c.1921A>G	ENSP00000328531.4:p.Ser641Gly
NM_000238.3:c.2941A>G , LRG_288t1:c.2941A>G	NP_000229.1:p.Ser981Gly
NM_172057.2:c.1921A>G , LRG_288t3:c.1921A>G	NP_742054.1:p.Ser641Gly
XM_011516185.1:c.2641A>G	XP_011514487.1:p.Ser881Gly
XM_011516186.1:c.*21A>G	XP_011514488.1:n.*21A>G
XM_011516185.2:c.2641A>G	XP_011514487.1:p.Ser881Gly
XM_011516186.3:c.*21A>G	XP_011514488.1:n.*21A>G
XM_017012195.1:c.2791A>G	XP_016867684.1:p.Ser931Gly
XM_017012196.1:c.2764A>G	XP_016867685.1:p.Ser922Gly
NM_000238.4:c.2941A>G MANE Select	NP_000229.1:p.Ser981Gly
NM_172057.3:c.1921A>G	NP_742054.1:p.Ser641Gly