Canonical Allele Identifier: CA10575751

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 207967
• ClinVar RCV Id: RCV000234798 ; RCV000801452 ; RCV000825589 ; RCV001842943 ; RCV001781560
• dbSNP Id: rs794728568
• MyVariant Identifiers: chr11:g.2591937G>A (hg19) ; chr11:g.2570707G>A (hg38)
• PubMed: PMID:27041150 ; PMID:27485560

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570707G>A , CM000673.2:g.2570707G>A	GRCh38
NC_000011.9:g.2591937G>A , CM000673.1:g.2591937G>A	GRCh37
NC_000011.8:g.2548513G>A	NCBI36
NG_008935.1:g.130717G>A , LRG_287:g.130717G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.296G>A	ENSP00000434560.2:p.Gly99Asp
ENST00000646564.2:c.478-12728G>A	ENSP00000495806.2:n.478-12728G>A
ENST00000155840.12:c.557G>A MANE Select	ENSP00000155840.2:p.Gly186Asp
ENST00000335475.6:c.176G>A	ENSP00000334497.5:p.Gly59Asp
ENST00000646564.1:c.124-12728G>A	ENSP00000495806.1:n.124-12728G>A
ENST00000155840.9:c.557G>A	ENSP00000155840.2:p.Gly186Asp
ENST00000335475.5:c.176G>A	ENSP00000334497.5:p.Gly59Asp
ENST00000496887.6:c.296G>A	ENSP00000434560.1:p.Gly99Asp
NM_000218.2:c.557G>A , LRG_287t1:c.557G>A	NP_000209.2:p.Gly186Asp
NM_181798.1:c.176G>A , LRG_287t2:c.176G>A	NP_861463.1:p.Gly59Asp
NM_000218.3:c.557G>A MANE Select	NP_000209.2:p.Gly186Asp