Canonical Allele Identifier: CA4147508

Gene: FSCN1

Linked Data

• dbSNP Id: rs377275041
• ExAC: 7:5643159 G / A
• gnomAD v2: 7-5643159-G-A
• gnomAD v3: 7-5603528-G-A
• gnomAD v4: 7-5603528-G-A
• COSMIC: COSM3881920
• MyVariant Identifiers: chr7:g.5643159G>A (hg19) ; chr7:g.5603528G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5603528G>A , CM000669.2:g.5603528G>A	GRCh38
NC_000007.13:g.5643159G>A , CM000669.1:g.5643159G>A	GRCh37
NC_000007.12:g.5609685G>A	NCBI36
NG_030004.1:g.15724G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382361.8:c.1022G>A MANE Select	ENSP00000371798.3:p.Arg341His
ENST00000382361.7:c.1022G>A	ENSP00000371798.3:p.Arg341His
ENST00000405801.2:c.188G>A	ENSP00000383982.2:p.Arg63His
ENST00000444748.5:c.188G>A	ENSP00000404506.1:p.Arg63His
ENST00000447103.5:c.188G>A	ENSP00000409967.1:p.Arg63His
ENST00000473330.1:n.575G>A
NM_003088.3:c.1022G>A	NP_003079.1:p.Arg341His
NM_003088.4:c.1022G>A MANE Select	NP_003079.1:p.Arg341His