Canonical Allele Identifier: CA379132964
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2583445-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583445C>A , CM000673.2:g.2583445C>A GRCh38
NC_000011.9:g.2604675C>A , CM000673.1:g.2604675C>A GRCh37
NC_000011.8:g.2561251C>A NCBI36
NG_008935.1:g.143455C>A , LRG_287:g.143455C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.671C>A ENSP00000434560.2:p.Thr224Asn
ENST00000646564.2:c.488C>A ENSP00000495806.2:p.Thr163Asn
ENST00000155840.12:c.932C>A MANE Select ENSP00000155840.2:p.Thr311Asn
ENST00000335475.6:c.551C>A ENSP00000334497.5:p.Thr184Asn
ENST00000646564.1:c.134C>A ENSP00000495806.1:p.Thr45Asn
ENST00000155840.9:c.932C>A ENSP00000155840.2:p.Thr311Asn
ENST00000335475.5:c.551C>A ENSP00000334497.5:p.Thr184Asn
NM_000218.2:c.932C>A , LRG_287t1:c.932C>A NP_000209.2:p.Thr311Asn
NM_181798.1:c.551C>A , LRG_287t2:c.551C>A NP_861463.1:p.Thr184Asn
NM_000218.3:c.932C>A MANE Select NP_000209.2:p.Thr311Asn