Canonical Allele Identifier: CA1948223935
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs572432871

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583135C>A , CM000673.2:g.2583135C>A GRCh38
NC_000011.9:g.2604365C>A , CM000673.1:g.2604365C>A GRCh37
NC_000011.8:g.2560941C>A NCBI36
NG_008935.1:g.143145C>A , LRG_287:g.143145C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.661-300C>A ENSP00000434560.2:n.661-300C>A
ENST00000646564.2:c.478-300C>A ENSP00000495806.2:n.478-300C>A
ENST00000155840.12:c.922-300C>A MANE Select ENSP00000155840.2:n.922-300C>A
ENST00000335475.6:c.541-300C>A ENSP00000334497.5:n.541-300C>A
ENST00000646564.1:c.124-300C>A ENSP00000495806.1:n.124-300C>A
ENST00000155840.9:c.922-300C>A ENSP00000155840.2:n.922-300C>A
ENST00000335475.5:c.541-300C>A ENSP00000334497.5:n.541-300C>A
NM_000218.2:c.922-300C>A , LRG_287t1:c.922-300C>A NP_000209.2:n.922-300C>A
NM_181798.1:c.541-300C>A , LRG_287t2:c.541-300C>A NP_861463.1:n.541-300C>A
NM_000218.3:c.922-300C>A MANE Select NP_000209.2:n.922-300C>A