Canonical Allele Identifier: CA2574728111

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527984dup , CM000673.2:g.2527984dup	GRCh38
NC_000011.9:g.2549214dup , CM000673.1:g.2549214dup	GRCh37
NC_000011.8:g.2505790dup	NCBI36
NG_008935.1:g.87994dup , LRG_287:g.87994dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.182dup	ENSP00000434560.2:p.Tyr61Ter
ENST00000646564.2:c.443dup	ENSP00000495806.2:p.Tyr148Ter
ENST00000155840.12:c.443dup MANE Select	ENSP00000155840.2:p.Tyr148Ter
ENST00000335475.6:c.62dup	ENSP00000334497.5:p.Tyr21Ter
ENST00000646564.1:c.89dup	ENSP00000495806.1:p.Tyr30Ter
ENST00000155840.9:c.443dup	ENSP00000155840.2:p.Tyr148Ter
ENST00000335475.5:c.62dup	ENSP00000334497.5:p.Tyr21Ter
ENST00000496887.6:c.182dup	ENSP00000434560.1:p.Tyr61Ter
NM_000218.2:c.443dup , LRG_287t1:c.443dup	NP_000209.2:p.Tyr148Ter
NM_181798.1:c.62dup , LRG_287t2:c.62dup	NP_861463.1:p.Tyr21Ter
NM_000218.3:c.443dup MANE Select	NP_000209.2:p.Tyr148Ter