Canonical Allele Identifier: CA005936

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67039
• ClinVar RCV Id: RCV000057598 ; RCV000182200 ; RCV002399418
• dbSNP Id: rs199472789
• MyVariant Identifiers: chr11:g.2790124A>C (hg19) ; chr11:g.2768894A>C (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768894A>C , CM000673.2:g.2768894A>C	GRCh38
NC_000011.9:g.2790124A>C , CM000673.1:g.2790124A>C	GRCh37
NC_000011.8:g.2746700A>C	NCBI36
NG_008935.1:g.328904A>C , LRG_287:g.328904A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1208A>C	ENSP00000434560.2:p.Tyr403Ser
ENST00000646564.2:c.1025A>C	ENSP00000495806.2:p.Tyr342Ser
ENST00000155840.12:c.1565A>C MANE Select	ENSP00000155840.2:p.Tyr522Ser
ENST00000335475.6:c.1184A>C	ENSP00000334497.5:p.Tyr395Ser
ENST00000646564.1:c.671A>C	ENSP00000495806.1:p.Tyr224Ser
ENST00000155840.9:c.1565A>C	ENSP00000155840.2:p.Tyr522Ser
ENST00000335475.5:c.1184A>C	ENSP00000334497.5:p.Tyr395Ser
NM_000218.2:c.1565A>C , LRG_287t1:c.1565A>C	NP_000209.2:p.Tyr522Ser
NM_181798.1:c.1184A>C , LRG_287t2:c.1184A>C	NP_861463.1:p.Tyr395Ser
NM_000218.3:c.1565A>C MANE Select	NP_000209.2:p.Tyr522Ser