Canonical Allele Identifier: CA2611999702
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2445077-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445077C>A , CM000673.2:g.2445077C>A GRCh38
NC_000011.9:g.2466307C>A , CM000673.1:g.2466307C>A GRCh37
NC_000011.8:g.2422883C>A NCBI36
NG_008935.1:g.5087C>A , LRG_287:g.5087C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-306C>A ENSP00000434560.2:n.24-306C>A
ENST00000646564.2:c.-22C>A ENSP00000495806.2:n.-22C>A
ENST00000155840.12:c.-22C>A MANE Select ENSP00000155840.2:n.-22C>A
ENST00000155840.9:c.-22C>A ENSP00000155840.2:n.-22C>A
ENST00000496887.6:c.24-306C>A ENSP00000434560.1:n.24-306C>A
NM_000218.2:c.-22C>A , LRG_287t1:c.-22C>A NP_000209.2:n.-22C>A
NM_000218.3:c.-22C>A MANE Select NP_000209.2:n.-22C>A
Search 100 bp 5'
Search 100 bp 3'