Canonical Allele Identifier: CA572822208
Gene: FSCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1374951716
gnomAD v2: 7-5642878-C-T
gnomAD v3: 7-5603247-C-T
gnomAD v4: 7-5603247-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5603247C>T , CM000669.2:g.5603247C>T GRCh38
NC_000007.13:g.5642878C>T , CM000669.1:g.5642878C>T GRCh37
NC_000007.12:g.5609404C>T NCBI36
NG_030004.1:g.15443C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382361.8:c.833-10C>T MANE Select ENSP00000371798.3:n.833-10C>T
ENST00000382361.7:c.833-10C>T ENSP00000371798.3:n.833-10C>T
ENST00000405801.2:c.-2-10C>T ENSP00000383982.2:n.-2-10C>T
ENST00000444748.5:c.-2-10C>T ENSP00000404506.1:n.-2-10C>T
ENST00000447103.5:c.-2-10C>T ENSP00000409967.1:n.-2-10C>T
ENST00000473330.1:n.376C>T
NM_003088.3:c.833-10C>T NP_003079.1:n.833-10C>T
NM_003088.4:c.833-10C>T MANE Select NP_003079.1:n.833-10C>T