Canonical Allele Identifier: CA472416174
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1788056
ClinVar RCV Id: RCV002428201
MyVariant Identifiers: chr11:g.2466550A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445320A>C , CM000673.2:g.2445320A>C GRCh38
NC_000011.9:g.2466550A>C , CM000673.1:g.2466550A>C GRCh37
NC_000011.8:g.2423126A>C NCBI36
NG_008935.1:g.5330A>C , LRG_287:g.5330A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-63A>C ENSP00000434560.2:n.24-63A>C
ENST00000646564.2:c.222A>C ENSP00000495806.2:p.Pro74=
ENST00000155840.12:c.222A>C MANE Select ENSP00000155840.2:p.Pro74=
ENST00000155840.9:c.222A>C ENSP00000155840.2:p.Pro74=
ENST00000496887.6:c.24-63A>C ENSP00000434560.1:n.24-63A>C
NM_000218.2:c.222A>C , LRG_287t1:c.222A>C NP_000209.2:p.Pro74=
NM_000218.3:c.222A>C MANE Select NP_000209.2:p.Pro74=
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