Canonical Allele Identifier: CA007421

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53064
• ClinVar RCV Id: RCV000057698 ; RCV000988472 ; RCV002345339
• dbSNP Id: rs199473397
• MyVariant Identifiers: chr11:g.2591931A>C (hg19) ; chr11:g.2570701A>C (hg38)
• PubMed: PMID:10220144 ; PMID:10973849 ; PMID:12566525 ; PMID:17470695 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570701A>C , CM000673.2:g.2570701A>C	GRCh38
NC_000011.9:g.2591931A>C , CM000673.1:g.2591931A>C	GRCh37
NC_000011.8:g.2548507A>C	NCBI36
NG_008935.1:g.130711A>C , LRG_287:g.130711A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.290A>C	ENSP00000434560.2:p.Tyr97Ser
ENST00000646564.2:c.478-12734A>C	ENSP00000495806.2:n.478-12734A>C
ENST00000155840.12:c.551A>C MANE Select	ENSP00000155840.2:p.Tyr184Ser
ENST00000335475.6:c.170A>C	ENSP00000334497.5:p.Tyr57Ser
ENST00000646564.1:c.124-12734A>C	ENSP00000495806.1:n.124-12734A>C
ENST00000155840.9:c.551A>C	ENSP00000155840.2:p.Tyr184Ser
ENST00000335475.5:c.170A>C	ENSP00000334497.5:p.Tyr57Ser
ENST00000496887.6:c.290A>C	ENSP00000434560.1:p.Tyr97Ser
NM_000218.2:c.551A>C , LRG_287t1:c.551A>C	NP_000209.2:p.Tyr184Ser
NM_181798.1:c.170A>C , LRG_287t2:c.170A>C	NP_861463.1:p.Tyr57Ser
NM_000218.3:c.551A>C MANE Select	NP_000209.2:p.Tyr184Ser