Canonical Allele Identifier: CA2580719860
Gene: FSCN1 HGNC NCBI

Linked Data

gnomAD v4: 7-5603115-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5603115T>G , CM000669.2:g.5603115T>G GRCh38
NC_000007.13:g.5642746T>G , CM000669.1:g.5642746T>G GRCh37
NC_000007.12:g.5609272T>G NCBI36
NG_030004.1:g.15311T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382361.8:c.833-142T>G MANE Select ENSP00000371798.3:n.833-142T>G
ENST00000382361.7:c.833-142T>G ENSP00000371798.3:n.833-142T>G
ENST00000405801.2:c.-2-142T>G ENSP00000383982.2:n.-2-142T>G
ENST00000444748.5:c.-2-142T>G ENSP00000404506.1:n.-2-142T>G
ENST00000447103.5:c.-2-142T>G ENSP00000409967.1:n.-2-142T>G
ENST00000473330.1:n.244T>G
NM_003088.3:c.833-142T>G NP_003079.1:n.833-142T>G
NM_003088.4:c.833-142T>G MANE Select NP_003079.1:n.833-142T>G
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