Canonical Allele Identifier: CA008569
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 179293
dbSNP Id: rs727504769
gnomAD v2: 11-2594195-A-C
gnomAD v3: 11-2572965-A-C
gnomAD v4: 11-2572965-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572965A>C , CM000673.2:g.2572965A>C GRCh38
NC_000011.9:g.2594195A>C , CM000673.1:g.2594195A>C GRCh37
NC_000011.8:g.2550771A>C NCBI36
NG_008935.1:g.132975A>C , LRG_287:g.132975A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.639A>C ENSP00000434560.2:p.Ala213=
ENST00000646564.2:c.478-10470A>C ENSP00000495806.2:n.478-10470A>C
ENST00000155840.12:c.900A>C MANE Select ENSP00000155840.2:p.Ala300=
ENST00000335475.6:c.519A>C ENSP00000334497.5:p.Ala173=
ENST00000646564.1:c.124-10470A>C ENSP00000495806.1:n.124-10470A>C
ENST00000155840.9:c.900A>C ENSP00000155840.2:p.Ala300=
ENST00000335475.5:c.519A>C ENSP00000334497.5:p.Ala173=
NM_000218.2:c.900A>C , LRG_287t1:c.900A>C NP_000209.2:p.Ala300=
NM_181798.1:c.519A>C , LRG_287t2:c.519A>C NP_861463.1:p.Ala173=
NM_000218.3:c.900A>C MANE Select NP_000209.2:p.Ala300=