Canonical Allele Identifier: CA2723115988
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1846012644
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445009G>A , CM000673.2:g.2445009G>A GRCh38
NC_000011.9:g.2466239G>A , CM000673.1:g.2466239G>A GRCh37
NC_000011.8:g.2422815G>A NCBI36
NG_008935.1:g.5019G>A , LRG_287:g.5019G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+301G>A ENSP00000434560.2:n.23+301G>A
ENST00000646564.2:c.-90G>A ENSP00000495806.2:n.-90G>A
ENST00000155840.12:c.-90G>A MANE Select ENSP00000155840.2:n.-90G>A
ENST00000155840.9:c.-90G>A ENSP00000155840.2:n.-90G>A
ENST00000496887.6:c.23+301G>A ENSP00000434560.1:n.23+301G>A
NM_000218.2:c.-90G>A , LRG_287t1:c.-90G>A NP_000209.2:n.-90G>A
NM_000218.3:c.-90G>A MANE Select NP_000209.2:n.-90G>A
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