Canonical Allele Identifier: CA366723059
Gene: FSCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1408173635
gnomAD v2: 7-5642917-G-C
gnomAD v3: 7-5603286-G-C
gnomAD v4: 7-5603286-G-C
MyVariant Identifiers: chr7:g.5642917G>C (hg19) chr7:g.5603286G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5603286G>C , CM000669.2:g.5603286G>C GRCh38
NC_000007.13:g.5642917G>C , CM000669.1:g.5642917G>C GRCh37
NC_000007.12:g.5609443G>C NCBI36
NG_030004.1:g.15482G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382361.8:c.862G>C MANE Select ENSP00000371798.3:p.Glu288Gln
ENST00000382361.7:c.862G>C ENSP00000371798.3:p.Glu288Gln
ENST00000405801.2:c.28G>C ENSP00000383982.2:p.Glu10Gln
ENST00000444748.5:c.28G>C ENSP00000404506.1:p.Glu10Gln
ENST00000447103.5:c.28G>C ENSP00000409967.1:p.Glu10Gln
ENST00000473330.1:n.415G>C
NM_003088.3:c.862G>C NP_003079.1:p.Glu288Gln
NM_003088.4:c.862G>C MANE Select NP_003079.1:p.Glu288Gln
Search 100 bp 5'
Search 100 bp 3'