Canonical Allele Identifier: CA028983
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 628813
dbSNP Id: rs747704276
gnomAD v2: 11-2610066-G-A
gnomAD v3: 11-2588836-G-A
gnomAD v4: 11-2588836-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2588836G>A , CM000673.2:g.2588836G>A GRCh38
NC_000011.9:g.2610066G>A , CM000673.1:g.2610066G>A GRCh37
NC_000011.8:g.2566642G>A NCBI36
NG_008935.1:g.148846G>A , LRG_287:g.148846G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1018G>A ENSP00000434560.2:p.Asp340Asn
ENST00000646564.2:c.835G>A ENSP00000495806.2:p.Asp279Asn
ENST00000155840.12:c.1375G>A MANE Select ENSP00000155840.2:p.Asp459Asn
ENST00000335475.6:c.994G>A ENSP00000334497.5:p.Asp332Asn
ENST00000646564.1:c.481G>A ENSP00000495806.1:p.Asp161Asn
ENST00000155840.9:c.1375G>A ENSP00000155840.2:p.Asp459Asn
ENST00000335475.5:c.994G>A ENSP00000334497.5:p.Asp332Asn
NM_000218.2:c.1375G>A , LRG_287t1:c.1375G>A NP_000209.2:p.Asp459Asn
NM_181798.1:c.994G>A , LRG_287t2:c.994G>A NP_861463.1:p.Asp332Asn
NM_000218.3:c.1375G>A MANE Select NP_000209.2:p.Asp459Asn