Canonical Allele Identifier: CA005936
Gene: KCNQ1 HGNC NCBI

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
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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
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