Canonical Allele Identifier: CA005672
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 52980
dbSNP Id: rs140452381
gnomAD v2: 11-2610045-C-T
gnomAD v3: 11-2588815-C-T
gnomAD v4: 11-2588815-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2588815C>T , CM000673.2:g.2588815C>T GRCh38
NC_000011.9:g.2610045C>T , CM000673.1:g.2610045C>T GRCh37
NC_000011.8:g.2566621C>T NCBI36
NG_008935.1:g.148825C>T , LRG_287:g.148825C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.997C>T ENSP00000434560.2:p.Arg333Trp
ENST00000646564.2:c.814C>T ENSP00000495806.2:p.Arg272Trp
ENST00000155840.12:c.1354C>T MANE Select ENSP00000155840.2:p.Arg452Trp
ENST00000335475.6:c.973C>T ENSP00000334497.5:p.Arg325Trp
ENST00000646564.1:c.460C>T ENSP00000495806.1:p.Arg154Trp
ENST00000155840.9:c.1354C>T ENSP00000155840.2:p.Arg452Trp
ENST00000335475.5:c.973C>T ENSP00000334497.5:p.Arg325Trp
NM_000218.2:c.1354C>T , LRG_287t1:c.1354C>T NP_000209.2:p.Arg452Trp
NM_181798.1:c.973C>T , LRG_287t2:c.973C>T NP_861463.1:p.Arg325Trp
NM_000218.3:c.1354C>T MANE Select NP_000209.2:p.Arg452Trp