Canonical Allele Identifier: CA4147468
Gene: FSCN1 HGNC NCBI

Linked Data

dbSNP Id: rs760536657
ExAC: 7:5643009 G / A
gnomAD v2: 7-5643009-G-A
gnomAD v4: 7-5603378-G-A
MyVariant Identifiers: chr7:g.5643009G>A (hg19) chr7:g.5603378G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5603378G>A , CM000669.2:g.5603378G>A GRCh38
NC_000007.13:g.5643009G>A , CM000669.1:g.5643009G>A GRCh37
NC_000007.12:g.5609535G>A NCBI36
NG_030004.1:g.15574G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382361.8:c.954G>A MANE Select ENSP00000371798.3:p.Thr318=
ENST00000382361.7:c.954G>A ENSP00000371798.3:p.Thr318=
ENST00000405801.2:c.120G>A ENSP00000383982.2:p.Thr40=
ENST00000444748.5:c.120G>A ENSP00000404506.1:p.Thr40=
ENST00000447103.5:c.120G>A ENSP00000409967.1:p.Thr40=
ENST00000473330.1:n.507G>A
NM_003088.3:c.954G>A NP_003079.1:p.Thr318=
NM_003088.4:c.954G>A MANE Select NP_003079.1:p.Thr318=
Search 100 bp 5'
Search 100 bp 3'