Canonical Allele Identifier: CA1097928822
Gene: FSCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1785871346
gnomAD v3: 7-5603453-T-A
gnomAD v4: 7-5603453-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5603453T>A , CM000669.2:g.5603453T>A GRCh38
NC_000007.13:g.5643084T>A , CM000669.1:g.5643084T>A GRCh37
NC_000007.12:g.5609610T>A NCBI36
NG_030004.1:g.15649T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382361.8:c.989+40T>A MANE Select ENSP00000371798.3:n.989+40T>A
ENST00000382361.7:c.989+40T>A ENSP00000371798.3:n.989+40T>A
ENST00000405801.2:c.155+40T>A ENSP00000383982.2:n.155+40T>A
ENST00000444748.5:c.155+40T>A ENSP00000404506.1:n.155+40T>A
ENST00000447103.5:c.155+40T>A ENSP00000409967.1:n.155+40T>A
ENST00000473330.1:n.542+40T>A
NM_003088.3:c.989+40T>A NP_003079.1:n.989+40T>A
NM_003088.4:c.989+40T>A MANE Select NP_003079.1:n.989+40T>A