Canonical Allele Identifier: CA2612002463

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2583365-T-TGGGTTAGGCAGTTGGCCCTCCCGA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583368_2583391dup , CM000673.2:g.2583368_2583391dup	GRCh38
NC_000011.9:g.2604598_2604621dup , CM000673.1:g.2604598_2604621dup	GRCh37
NC_000011.8:g.2561174_2561197dup	NCBI36
NG_008935.1:g.143378_143401dup , LRG_287:g.143378_143401dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.661-67_661-44dup	ENSP00000434560.2:n.661-67_661-44dup
ENST00000646564.2:c.478-67_478-44dup	ENSP00000495806.2:n.478-67_478-44dup
ENST00000155840.12:c.922-67_922-44dup MANE Select	ENSP00000155840.2:n.922-67_922-44dup
ENST00000335475.6:c.541-67_541-44dup	ENSP00000334497.5:n.541-67_541-44dup
ENST00000646564.1:c.124-67_124-44dup	ENSP00000495806.1:n.124-67_124-44dup
ENST00000155840.9:c.922-67_922-44dup	ENSP00000155840.2:n.922-67_922-44dup
ENST00000335475.5:c.541-67_541-44dup	ENSP00000334497.5:n.541-67_541-44dup
NM_000218.2:c.922-67_922-44dup , LRG_287t1:c.922-67_922-44dup	NP_000209.2:n.922-67_922-44dup
NM_181798.1:c.541-67_541-44dup , LRG_287t2:c.541-67_541-44dup	NP_861463.1:n.541-67_541-44dup
NM_000218.3:c.922-67_922-44dup MANE Select	NP_000209.2:n.922-67_922-44dup