Canonical Allele Identifier: CA2612002148

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2570507-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570508dup , CM000673.2:g.2570508dup	GRCh38
NC_000011.9:g.2591738dup , CM000673.1:g.2591738dup	GRCh37
NC_000011.8:g.2548314dup	NCBI36
NG_008935.1:g.130518dup , LRG_287:g.130518dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.217-120dup	ENSP00000434560.2:n.217-120dup
ENST00000646564.2:c.478-12927dup	ENSP00000495806.2:n.478-12927dup
ENST00000155840.12:c.478-120dup MANE Select	ENSP00000155840.2:n.478-120dup
ENST00000335475.6:c.97-120dup	ENSP00000334497.5:n.97-120dup
ENST00000646564.1:c.124-12927dup	ENSP00000495806.1:n.124-12927dup
ENST00000155840.9:c.478-120dup	ENSP00000155840.2:n.478-120dup
ENST00000335475.5:c.97-120dup	ENSP00000334497.5:n.97-120dup
ENST00000496887.6:c.217-120dup	ENSP00000434560.1:n.217-120dup
NM_000218.2:c.478-120dup , LRG_287t1:c.478-120dup	NP_000209.2:n.478-120dup
NM_181798.1:c.97-120dup , LRG_287t2:c.97-120dup	NP_861463.1:n.97-120dup
NM_000218.3:c.478-120dup MANE Select	NP_000209.2:n.478-120dup