Canonical Allele Identifier: CA379130026

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570733C>G , CM000673.2:g.2570733C>G	GRCh38
NC_000011.9:g.2591963C>G , CM000673.1:g.2591963C>G	GRCh37
NC_000011.8:g.2548539C>G	NCBI36
NG_008935.1:g.130743C>G , LRG_287:g.130743C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.583C>G MANE Select	NP_000209.2:p.Arg195Gly
ENST00000155840.12:c.583C>G MANE Select	ENSP00000155840.2:p.Arg195Gly
NM_000218.2:c.583C>G , LRG_287t1:c.583C>G	NP_000209.2:p.Arg195Gly
NM_181798.1:c.202C>G , LRG_287t2:c.202C>G	NP_861463.1:p.Arg68Gly
ENST00000155840.9:c.583C>G	ENSP00000155840.2:p.Arg195Gly
ENST00000335475.5:c.202C>G	ENSP00000334497.5:p.Arg68Gly
ENST00000335475.6:c.202C>G	ENSP00000334497.5:p.Arg68Gly
ENST00000496887.6:c.322C>G	ENSP00000434560.1:p.Arg108Gly
ENST00000496887.7:c.322C>G	ENSP00000434560.2:p.Arg108Gly
ENST00000646564.1:c.124-12702C>G	ENSP00000495806.1:n.124-12702C>G
ENST00000646564.2:c.478-12702C>G	ENSP00000495806.2:n.478-12702C>G