Canonical Allele Identifier: CA379132949
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583434G>T , CM000673.2:g.2583434G>T GRCh38
NC_000011.9:g.2604664G>T , CM000673.1:g.2604664G>T GRCh37
NC_000011.8:g.2561240G>T NCBI36
NG_008935.1:g.143444G>T , LRG_287:g.143444G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.661-1G>T ENSP00000434560.2:n.661-1G>T
ENST00000646564.2:c.478-1G>T ENSP00000495806.2:n.478-1G>T
ENST00000155840.12:c.922-1G>T MANE Select ENSP00000155840.2:n.922-1G>T
ENST00000335475.6:c.541-1G>T ENSP00000334497.5:n.541-1G>T
ENST00000646564.1:c.124-1G>T ENSP00000495806.1:n.124-1G>T
ENST00000155840.9:c.922-1G>T ENSP00000155840.2:n.922-1G>T
ENST00000335475.5:c.541-1G>T ENSP00000334497.5:n.541-1G>T
NM_000218.2:c.922-1G>T , LRG_287t1:c.922-1G>T NP_000209.2:n.922-1G>T
NM_181798.1:c.541-1G>T , LRG_287t2:c.541-1G>T NP_861463.1:n.541-1G>T
NM_000218.3:c.922-1G>T MANE Select NP_000209.2:n.922-1G>T