Canonical Allele Identifier: CA4147491
Gene: FSCN1 HGNC NCBI

Linked Data

dbSNP Id: rs763256193
gnomAD v2: 7-5643080-C-CA
gnomAD v4: 7-5603449-C-CA

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5603450dup , CM000669.2:g.5603450dup GRCh38
NC_000007.13:g.5643081dup , CM000669.1:g.5643081dup GRCh37
NC_000007.12:g.5609607dup NCBI36
NG_030004.1:g.15646dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382361.8:c.989+37dup MANE Select ENSP00000371798.3:n.989+37dup
ENST00000382361.7:c.989+37dup ENSP00000371798.3:n.989+37dup
ENST00000405801.2:c.155+37dup ENSP00000383982.2:n.155+37dup
ENST00000444748.5:c.155+37dup ENSP00000404506.1:n.155+37dup
ENST00000447103.5:c.155+37dup ENSP00000409967.1:n.155+37dup
ENST00000473330.1:n.542+37dup
NM_003088.3:c.989+37dup NP_003079.1:n.989+37dup
NM_003088.4:c.989+37dup MANE Select NP_003079.1:n.989+37dup