Canonical Allele Identifier: CA453640082

Gene: FSCN1

Linked Data

• dbSNP Id: rs1365798175
• gnomAD v2: 7-5643169-C-A
• gnomAD v4: 7-5603538-C-A
• MyVariant Identifiers: chr7:g.5643169C>A (hg19) ; chr7:g.5603538C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5603538C>A , CM000669.2:g.5603538C>A	GRCh38
NC_000007.13:g.5643169C>A , CM000669.1:g.5643169C>A	GRCh37
NC_000007.12:g.5609695C>A	NCBI36
NG_030004.1:g.15734C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382361.8:c.1032C>A MANE Select	ENSP00000371798.3:p.Arg344=
ENST00000382361.7:c.1032C>A	ENSP00000371798.3:p.Arg344=
ENST00000405801.2:c.198C>A	ENSP00000383982.2:p.Arg66=
ENST00000444748.5:c.198C>A	ENSP00000404506.1:p.Arg66=
ENST00000447103.5:c.198C>A	ENSP00000409967.1:p.Arg66=
ENST00000473330.1:n.585C>A
NM_003088.3:c.1032C>A	NP_003079.1:p.Arg344=
NM_003088.4:c.1032C>A MANE Select	NP_003079.1:p.Arg344=