Canonical Allele Identifier: CA366723196
Gene: FSCN1 HGNC NCBI

Linked Data

gnomAD v4: 7-5603306-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5603306C>A , CM000669.2:g.5603306C>A GRCh38
NC_000007.13:g.5642937C>A , CM000669.1:g.5642937C>A GRCh37
NC_000007.12:g.5609463C>A NCBI36
NG_030004.1:g.15502C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382361.8:c.882C>A MANE Select ENSP00000371798.3:p.Phe294Leu
ENST00000382361.7:c.882C>A ENSP00000371798.3:p.Phe294Leu
ENST00000405801.2:c.48C>A ENSP00000383982.2:p.Phe16Leu
ENST00000444748.5:c.48C>A ENSP00000404506.1:p.Phe16Leu
ENST00000447103.5:c.48C>A ENSP00000409967.1:p.Phe16Leu
ENST00000473330.1:n.435C>A
NM_003088.3:c.882C>A NP_003079.1:p.Phe294Leu
NM_003088.4:c.882C>A MANE Select NP_003079.1:p.Phe294Leu