Canonical Allele Identifier: CA366723167
Gene: FSCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1168885809
gnomAD v3: 7-5603302-C-T
gnomAD v4: 7-5603302-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5603302C>T , CM000669.2:g.5603302C>T GRCh38
NC_000007.13:g.5642933C>T , CM000669.1:g.5642933C>T GRCh37
NC_000007.12:g.5609459C>T NCBI36
NG_030004.1:g.15498C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382361.8:c.878C>T MANE Select ENSP00000371798.3:p.Thr293Ile
ENST00000382361.7:c.878C>T ENSP00000371798.3:p.Thr293Ile
ENST00000405801.2:c.44C>T ENSP00000383982.2:p.Thr15Ile
ENST00000444748.5:c.44C>T ENSP00000404506.1:p.Thr15Ile
ENST00000447103.5:c.44C>T ENSP00000409967.1:p.Thr15Ile
ENST00000473330.1:n.431C>T
NM_003088.3:c.878C>T NP_003079.1:p.Thr293Ile
NM_003088.4:c.878C>T MANE Select NP_003079.1:p.Thr293Ile