Canonical Allele Identifier: CA379131707
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572966G>C , CM000673.2:g.2572966G>C GRCh38
NC_000011.9:g.2594196G>C , CM000673.1:g.2594196G>C GRCh37
NC_000011.8:g.2550772G>C NCBI36
NG_008935.1:g.132976G>C , LRG_287:g.132976G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.640G>C ENSP00000434560.2:p.Asp214His
ENST00000646564.2:c.478-10469G>C ENSP00000495806.2:n.478-10469G>C
ENST00000155840.12:c.901G>C MANE Select ENSP00000155840.2:p.Asp301His
ENST00000335475.6:c.520G>C ENSP00000334497.5:p.Asp174His
ENST00000646564.1:c.124-10469G>C ENSP00000495806.1:n.124-10469G>C
ENST00000155840.9:c.901G>C ENSP00000155840.2:p.Asp301His
ENST00000335475.5:c.520G>C ENSP00000334497.5:p.Asp174His
NM_000218.2:c.901G>C , LRG_287t1:c.901G>C NP_000209.2:p.Asp301His
NM_181798.1:c.520G>C , LRG_287t2:c.520G>C NP_861463.1:p.Asp174His
NM_000218.3:c.901G>C MANE Select NP_000209.2:p.Asp301His