Canonical Allele Identifier: CA3002923265

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585180_2585181dup , CM000673.2:g.2585180_2585181dup	GRCh38
NC_000011.9:g.2606410_2606411dup , CM000673.1:g.2606410_2606411dup	GRCh37
NC_000011.8:g.2562986_2562987dup	NCBI36
NG_008935.1:g.145190_145191dup , LRG_287:g.145190_145191dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1635_771+1636dup	ENSP00000434560.2:n.771+1635_771+1636dup
ENST00000646564.2:c.588+1635_588+1636dup	ENSP00000495806.2:n.588+1635_588+1636dup
ENST00000155840.12:c.1033-32_1033-31dup MANE Select	ENSP00000155840.2:n.1033-32_1033-31dup
ENST00000335475.6:c.652-32_652-31dup	ENSP00000334497.5:n.652-32_652-31dup
ENST00000646564.1:c.234+1635_234+1636dup	ENSP00000495806.1:n.234+1635_234+1636dup
ENST00000155840.9:c.1033-32_1033-31dup	ENSP00000155840.2:n.1033-32_1033-31dup
ENST00000335475.5:c.652-32_652-31dup	ENSP00000334497.5:n.652-32_652-31dup
NM_000218.2:c.1033-32_1033-31dup , LRG_287t1:c.1033-32_1033-31dup	NP_000209.2:n.1033-32_1033-31dup
NM_181798.1:c.652-32_652-31dup , LRG_287t2:c.652-32_652-31dup	NP_861463.1:n.652-32_652-31dup
NM_000218.3:c.1033-32_1033-31dup MANE Select	NP_000209.2:n.1033-32_1033-31dup