Canonical Allele Identifier: CA379131010
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572075G>C , CM000673.2:g.2572075G>C GRCh38
NC_000011.9:g.2593305G>C , CM000673.1:g.2593305G>C GRCh37
NC_000011.8:g.2549881G>C NCBI36
NG_008935.1:g.132085G>C , LRG_287:g.132085G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.485G>C ENSP00000434560.2:p.Arg162Thr
ENST00000646564.2:c.478-11360G>C ENSP00000495806.2:n.478-11360G>C
ENST00000155840.12:c.746G>C MANE Select ENSP00000155840.2:p.Arg249Thr
ENST00000335475.6:c.365G>C ENSP00000334497.5:p.Arg122Thr
ENST00000646564.1:c.124-11360G>C ENSP00000495806.1:n.124-11360G>C
ENST00000155840.9:c.746G>C ENSP00000155840.2:p.Arg249Thr
ENST00000335475.5:c.365G>C ENSP00000334497.5:p.Arg122Thr
ENST00000496887.6:c.485G>C ENSP00000434560.1:p.Arg162Thr
NM_000218.2:c.746G>C , LRG_287t1:c.746G>C NP_000209.2:p.Arg249Thr
NM_181798.1:c.365G>C , LRG_287t2:c.365G>C NP_861463.1:p.Arg122Thr
NM_000218.3:c.746G>C MANE Select NP_000209.2:p.Arg249Thr