Canonical Allele Identifier: CA379133038
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583492A>C , CM000673.2:g.2583492A>C GRCh38
NC_000011.9:g.2604722A>C , CM000673.1:g.2604722A>C GRCh37
NC_000011.8:g.2561298A>C NCBI36
NG_008935.1:g.143502A>C , LRG_287:g.143502A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.718A>C ENSP00000434560.2:p.Thr240Pro
ENST00000646564.2:c.535A>C ENSP00000495806.2:p.Thr179Pro
ENST00000155840.12:c.979A>C MANE Select ENSP00000155840.2:p.Thr327Pro
ENST00000335475.6:c.598A>C ENSP00000334497.5:p.Thr200Pro
ENST00000646564.1:c.181A>C ENSP00000495806.1:p.Thr61Pro
ENST00000155840.9:c.979A>C ENSP00000155840.2:p.Thr327Pro
ENST00000335475.5:c.598A>C ENSP00000334497.5:p.Thr200Pro
NM_000218.2:c.979A>C , LRG_287t1:c.979A>C NP_000209.2:p.Thr327Pro
NM_181798.1:c.598A>C , LRG_287t2:c.598A>C NP_861463.1:p.Thr200Pro
NM_000218.3:c.979A>C MANE Select NP_000209.2:p.Thr327Pro