Canonical Allele Identifier: CA674975228

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1280436861
• gnomAD v3: 11-2572973-T-TG
• gnomAD v4: 11-2572973-T-TG
• MyVariant Identifiers: chr11:g.2594203_2594204insG (hg19) ; chr11:g.2572973_2572974insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572974dup , CM000673.2:g.2572974dup	GRCh38
NC_000011.9:g.2594204dup , CM000673.1:g.2594204dup	GRCh37
NC_000011.8:g.2550780dup	NCBI36
NG_008935.1:g.132984dup , LRG_287:g.132984dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.648dup	ENSP00000434560.2:p.Trp217ValfsTer?
ENST00000646564.2:c.478-10461dup	ENSP00000495806.2:n.478-10461dup
ENST00000155840.12:c.909dup MANE Select	ENSP00000155840.2:p.Trp304ValfsTer?
ENST00000335475.6:c.528dup	ENSP00000334497.5:p.Trp177ValfsTer?
ENST00000646564.1:c.124-10461dup	ENSP00000495806.1:n.124-10461dup
ENST00000155840.9:c.909dup	ENSP00000155840.2:p.Trp304ValfsTer?
ENST00000335475.5:c.528dup	ENSP00000334497.5:p.Trp177ValfsTer?
NM_000218.2:c.909dup , LRG_287t1:c.909dup	NP_000209.2:p.Trp304ValfsTer?
NM_181798.1:c.528dup , LRG_287t2:c.528dup	NP_861463.1:p.Trp177ValfsTer?
NM_000218.3:c.909dup MANE Select	NP_000209.2:p.Trp304ValfsTer?