Canonical Allele Identifier: CA472415611
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2445122-C-A
MyVariant Identifiers: chr11:g.2466352C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445122C>A , CM000673.2:g.2445122C>A GRCh38
NC_000011.9:g.2466352C>A , CM000673.1:g.2466352C>A GRCh37
NC_000011.8:g.2422928C>A NCBI36
NG_008935.1:g.5132C>A , LRG_287:g.5132C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-261C>A ENSP00000434560.2:n.24-261C>A
ENST00000646564.2:c.24C>A ENSP00000495806.2:p.Pro8=
ENST00000155840.12:c.24C>A MANE Select ENSP00000155840.2:p.Pro8=
ENST00000155840.9:c.24C>A ENSP00000155840.2:p.Pro8=
ENST00000496887.6:c.24-261C>A ENSP00000434560.1:n.24-261C>A
NM_000218.2:c.24C>A , LRG_287t1:c.24C>A NP_000209.2:p.Pro8=
NM_000218.3:c.24C>A MANE Select NP_000209.2:p.Pro8=
Search 100 bp 5'
Search 100 bp 3'