Canonical Allele Identifier: CA472416190
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2445341-G-A
MyVariant Identifiers: chr11:g.2466571G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445341G>A , CM000673.2:g.2445341G>A GRCh38
NC_000011.9:g.2466571G>A , CM000673.1:g.2466571G>A GRCh37
NC_000011.8:g.2423147G>A NCBI36
NG_008935.1:g.5351G>A , LRG_287:g.5351G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-42G>A ENSP00000434560.2:n.24-42G>A
ENST00000646564.2:c.243G>A ENSP00000495806.2:p.Pro81=
ENST00000155840.12:c.243G>A MANE Select ENSP00000155840.2:p.Pro81=
ENST00000155840.9:c.243G>A ENSP00000155840.2:p.Pro81=
ENST00000345015.4:n.20G>A
ENST00000496887.6:c.24-42G>A ENSP00000434560.1:n.24-42G>A
NM_000218.2:c.243G>A , LRG_287t1:c.243G>A NP_000209.2:p.Pro81=
NM_000218.3:c.243G>A MANE Select NP_000209.2:p.Pro81=
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