Canonical Allele Identifier: CA379139643

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2777990C>G , CM000673.2:g.2777990C>G	GRCh38
NC_000011.9:g.2799220C>G , CM000673.1:g.2799220C>G	GRCh37
NC_000011.8:g.2755796C>G	NCBI36
NG_008935.1:g.338000C>G , LRG_287:g.338000C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1747C>G MANE Select	NP_000209.2:p.Arg583Gly
ENST00000155840.12:c.1747C>G MANE Select	ENSP00000155840.2:p.Arg583Gly
NM_000218.2:c.1747C>G , LRG_287t1:c.1747C>G	NP_000209.2:p.Arg583Gly
NM_181798.1:c.1366C>G , LRG_287t2:c.1366C>G	NP_861463.1:p.Arg456Gly
ENST00000155840.9:c.1747C>G	ENSP00000155840.2:p.Arg583Gly
ENST00000335475.5:c.1366C>G	ENSP00000334497.5:p.Arg456Gly
ENST00000335475.6:c.1366C>G	ENSP00000334497.5:p.Arg456Gly
ENST00000496887.7:c.1390C>G	ENSP00000434560.2:p.Arg464Gly
ENST00000526095.1:n.254C>G
ENST00000526095.2:c.151C>G	ENSP00000494939.1:p.Arg51Gly
ENST00000646564.1:c.853C>G	ENSP00000495806.1:p.Arg285Gly
ENST00000646564.2:c.1207C>G	ENSP00000495806.2:p.Arg403Gly