Canonical Allele Identifier: CA026986
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207968
dbSNP Id: rs779383393
gnomAD v2: 11-2606460-T-C
gnomAD v4: 11-2585230-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2585230T>C , CM000673.2:g.2585230T>C GRCh38
NC_000011.9:g.2606460T>C , CM000673.1:g.2606460T>C GRCh37
NC_000011.8:g.2563036T>C NCBI36
NG_008935.1:g.145240T>C , LRG_287:g.145240T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.771+1685T>C ENSP00000434560.2:n.771+1685T>C
ENST00000646564.2:c.588+1685T>C ENSP00000495806.2:n.588+1685T>C
ENST00000155840.12:c.1051T>C MANE Select ENSP00000155840.2:p.Phe351Leu
ENST00000335475.6:c.670T>C ENSP00000334497.5:p.Phe224Leu
ENST00000646564.1:c.234+1685T>C ENSP00000495806.1:n.234+1685T>C
ENST00000155840.9:c.1051T>C ENSP00000155840.2:p.Phe351Leu
ENST00000335475.5:c.670T>C ENSP00000334497.5:p.Phe224Leu
NM_000218.2:c.1051T>C , LRG_287t1:c.1051T>C NP_000209.2:p.Phe351Leu
NM_181798.1:c.670T>C , LRG_287t2:c.670T>C NP_861463.1:p.Phe224Leu
NM_000218.3:c.1051T>C MANE Select NP_000209.2:p.Phe351Leu