Canonical Allele Identifier: CA379479552
Gene: KCNQ1 HGNC NCBI
KCNQ1OT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2662010A>C , CM000673.2:g.2662010A>C GRCh38
NC_000011.9:g.2683240A>C , CM000673.1:g.2683240A>C GRCh37
NC_000011.8:g.2639816A>C NCBI36
NG_008935.1:g.222020A>C , LRG_287:g.222020A>C
NG_016178.2:g.42989T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1086A>C (KCNQ1) ENSP00000434560.2:p.Arg362Ser
ENST00000646564.2:c.903A>C (KCNQ1) ENSP00000495806.2:p.Arg301Ser
ENST00000155840.12:c.1443A>C (KCNQ1) MANE Select ENSP00000155840.2:p.Arg481Ser
ENST00000335475.6:c.1062A>C (KCNQ1) ENSP00000334497.5:p.Arg354Ser
ENST00000646564.1:c.549A>C (KCNQ1) ENSP00000495806.1:p.Arg183Ser
ENST00000155840.9:c.1443A>C (KCNQ1) ENSP00000155840.2:p.Arg481Ser
ENST00000335475.5:c.1062A>C (KCNQ1) ENSP00000334497.5:p.Arg354Ser
NM_000218.2:c.1443A>C , LRG_287t1:c.1443A>C (KCNQ1) NP_000209.2:p.Arg481Ser
NM_181798.1:c.1062A>C , LRG_287t2:c.1062A>C (KCNQ1) NP_861463.1:p.Arg354Ser
NR_002728.3:n.37989T>G (KCNQ1OT1)
NM_000218.3:c.1443A>C (KCNQ1) MANE Select NP_000209.2:p.Arg481Ser