Canonical Allele Identifier: CA366723333

Gene: FSCN1

Linked Data

• dbSNP Id: rs1367197937
• gnomAD v2: 7-5642951-A-G
• gnomAD v4: 7-5603320-A-G
• MyVariant Identifiers: chr7:g.5642951A>G (hg19) ; chr7:g.5603320A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5603320A>G , CM000669.2:g.5603320A>G	GRCh38
NC_000007.13:g.5642951A>G , CM000669.1:g.5642951A>G	GRCh37
NC_000007.12:g.5609477A>G	NCBI36
NG_030004.1:g.15516A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382361.8:c.896A>G MANE Select	ENSP00000371798.3:p.Asp299Gly
ENST00000382361.7:c.896A>G	ENSP00000371798.3:p.Asp299Gly
ENST00000405801.2:c.62A>G	ENSP00000383982.2:p.Asp21Gly
ENST00000444748.5:c.62A>G	ENSP00000404506.1:p.Asp21Gly
ENST00000447103.5:c.62A>G	ENSP00000409967.1:p.Asp21Gly
ENST00000473330.1:n.449A>G
NM_003088.3:c.896A>G	NP_003079.1:p.Asp299Gly
NM_003088.4:c.896A>G MANE Select	NP_003079.1:p.Asp299Gly