Canonical Allele Identifier: CA379116786
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1846020554
MyVariant Identifiers: chr11:g.2466549C>A (hg19) chr11:g.2445319C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445319C>A , CM000673.2:g.2445319C>A GRCh38
NC_000011.9:g.2466549C>A , CM000673.1:g.2466549C>A GRCh37
NC_000011.8:g.2423125C>A NCBI36
NG_008935.1:g.5329C>A , LRG_287:g.5329C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-64C>A ENSP00000434560.2:n.24-64C>A
ENST00000646564.2:c.221C>A ENSP00000495806.2:p.Pro74Gln
ENST00000155840.12:c.221C>A MANE Select ENSP00000155840.2:p.Pro74Gln
ENST00000155840.9:c.221C>A ENSP00000155840.2:p.Pro74Gln
ENST00000496887.6:c.24-64C>A ENSP00000434560.1:n.24-64C>A
NM_000218.2:c.221C>A , LRG_287t1:c.221C>A NP_000209.2:p.Pro74Gln
NM_000218.3:c.221C>A MANE Select NP_000209.2:p.Pro74Gln
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