Canonical Allele Identifier: CA379116039
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2445169-G-A
MyVariant Identifiers: chr11:g.2466399G>A (hg19) chr11:g.2445169G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445169G>A , CM000673.2:g.2445169G>A GRCh38
NC_000011.9:g.2466399G>A , CM000673.1:g.2466399G>A GRCh37
NC_000011.8:g.2422975G>A NCBI36
NG_008935.1:g.5179G>A , LRG_287:g.5179G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.24-214G>A ENSP00000434560.2:n.24-214G>A
ENST00000646564.2:c.71G>A ENSP00000495806.2:p.Arg24Gln
ENST00000155840.12:c.71G>A MANE Select ENSP00000155840.2:p.Arg24Gln
ENST00000155840.9:c.71G>A ENSP00000155840.2:p.Arg24Gln
ENST00000496887.6:c.24-214G>A ENSP00000434560.1:n.24-214G>A
NM_000218.2:c.71G>A , LRG_287t1:c.71G>A NP_000209.2:p.Arg24Gln
NM_000218.3:c.71G>A MANE Select NP_000209.2:p.Arg24Gln
Search 100 bp 5'
Search 100 bp 3'