Canonical Allele Identifier: CA2580082600

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1787905
• ClinVar RCV Id: RCV002428060
• gnomAD v4: 11-2445314-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445319dup , CM000673.2:g.2445319dup	GRCh38
NC_000011.9:g.2466549dup , CM000673.1:g.2466549dup	GRCh37
NC_000011.8:g.2423125dup	NCBI36
NG_008935.1:g.5329dup , LRG_287:g.5329dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.24-64dup	ENSP00000434560.2:n.24-64dup
ENST00000646564.2:c.221dup	ENSP00000495806.2:p.Val75SerfsTer?
ENST00000155840.12:c.221dup MANE Select	ENSP00000155840.2:p.Val75SerfsTer?
ENST00000155840.9:c.221dup	ENSP00000155840.2:p.Val75SerfsTer?
ENST00000496887.6:c.24-64dup	ENSP00000434560.1:n.24-64dup
NM_000218.2:c.221dup , LRG_287t1:c.221dup	NP_000209.2:p.Val75SerfsTer?
NM_000218.3:c.221dup MANE Select	NP_000209.2:p.Val75SerfsTer?