Canonical Allele Identifier: CA366723389
Gene: FSCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1256728929
gnomAD v2: 7-5642962-A-G
gnomAD v3: 7-5603331-A-G
gnomAD v4: 7-5603331-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5603331A>G , CM000669.2:g.5603331A>G GRCh38
NC_000007.13:g.5642962A>G , CM000669.1:g.5642962A>G GRCh37
NC_000007.12:g.5609488A>G NCBI36
NG_030004.1:g.15527A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382361.8:c.907A>G MANE Select ENSP00000371798.3:p.Lys303Glu
ENST00000382361.7:c.907A>G ENSP00000371798.3:p.Lys303Glu
ENST00000405801.2:c.73A>G ENSP00000383982.2:p.Lys25Glu
ENST00000444748.5:c.73A>G ENSP00000404506.1:p.Lys25Glu
ENST00000447103.5:c.73A>G ENSP00000409967.1:p.Lys25Glu
ENST00000473330.1:n.460A>G
NM_003088.3:c.907A>G NP_003079.1:p.Lys303Glu
NM_003088.4:c.907A>G MANE Select NP_003079.1:p.Lys303Glu