Canonical Allele Identifier: CA4147482
Gene: FSCN1 HGNC NCBI

Linked Data

dbSNP Id: rs561836811
gnomAD v2: 7-5643059-C-T
gnomAD v3: 7-5603428-C-T
gnomAD v4: 7-5603428-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5603428C>T , CM000669.2:g.5603428C>T GRCh38
NC_000007.13:g.5643059C>T , CM000669.1:g.5643059C>T GRCh37
NC_000007.12:g.5609585C>T NCBI36
NG_030004.1:g.15624C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382361.8:c.989+15C>T MANE Select ENSP00000371798.3:n.989+15C>T
ENST00000382361.7:c.989+15C>T ENSP00000371798.3:n.989+15C>T
ENST00000405801.2:c.155+15C>T ENSP00000383982.2:n.155+15C>T
ENST00000444748.5:c.155+15C>T ENSP00000404506.1:n.155+15C>T
ENST00000447103.5:c.155+15C>T ENSP00000409967.1:n.155+15C>T
ENST00000473330.1:n.542+15C>T
NM_003088.3:c.989+15C>T NP_003079.1:n.989+15C>T
NM_003088.4:c.989+15C>T MANE Select NP_003079.1:n.989+15C>T