Canonical Allele Identifier: CA2839385711

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2777995dup , CM000673.2:g.2777995dup	GRCh38
NC_000011.9:g.2799225dup , CM000673.1:g.2799225dup	GRCh37
NC_000011.8:g.2755801dup	NCBI36
NG_008935.1:g.338005dup , LRG_287:g.338005dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1395dup	ENSP00000434560.2:p.Ser466GlnfsTer?
ENST00000646564.2:c.1212dup	ENSP00000495806.2:p.Ser405GlnfsTer?
ENST00000155840.12:c.1752dup MANE Select	ENSP00000155840.2:p.Ser585GlnfsTer?
ENST00000335475.6:c.1371dup	ENSP00000334497.5:p.Ser458GlnfsTer?
ENST00000526095.2:c.156dup	ENSP00000494939.1:p.Ser53GlnfsTer?
ENST00000646564.1:c.858dup	ENSP00000495806.1:p.Ser287GlnfsTer?
ENST00000155840.9:c.1752dup	ENSP00000155840.2:p.Ser585GlnfsTer?
ENST00000335475.5:c.1371dup	ENSP00000334497.5:p.Ser458GlnfsTer?
ENST00000526095.1:n.259dup
NM_000218.2:c.1752dup , LRG_287t1:c.1752dup	NP_000209.2:p.Ser585GlnfsTer?
NM_181798.1:c.1371dup , LRG_287t2:c.1371dup	NP_861463.1:p.Ser458GlnfsTer?
NM_000218.3:c.1752dup MANE Select	NP_000209.2:p.Ser585GlnfsTer?