Canonical Allele Identifier: CA379139345

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2777030C>G , CM000673.2:g.2777030C>G	GRCh38
NC_000011.9:g.2798260C>G , CM000673.1:g.2798260C>G	GRCh37
NC_000011.8:g.2754836C>G	NCBI36
NG_008935.1:g.337040C>G , LRG_287:g.337040C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1730C>G MANE Select	NP_000209.2:p.Ser577Ter
ENST00000155840.12:c.1730C>G MANE Select	ENSP00000155840.2:p.Ser577Ter
NM_000218.2:c.1730C>G , LRG_287t1:c.1730C>G	NP_000209.2:p.Ser577Ter
NM_181798.1:c.1349C>G , LRG_287t2:c.1349C>G	NP_861463.1:p.Ser450Ter
ENST00000155840.9:c.1730C>G	ENSP00000155840.2:p.Ser577Ter
ENST00000335475.5:c.1349C>G	ENSP00000334497.5:p.Ser450Ter
ENST00000335475.6:c.1349C>G	ENSP00000334497.5:p.Ser450Ter
ENST00000496887.7:c.1373C>G	ENSP00000434560.2:p.Ser458Ter
ENST00000646564.1:c.836C>G	ENSP00000495806.1:p.Ser279Ter
ENST00000646564.2:c.1190C>G	ENSP00000495806.2:p.Ser397Ter