Canonical Allele Identifier: CA153233502

Gene: FSCN1

Linked Data

• dbSNP Id: rs749163283
• gnomAD v4: 7-5603266-T-C
• MyVariant Identifiers: chr7:g.5642897T>C (hg19) ; chr7:g.5603266T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5603266T>C , CM000669.2:g.5603266T>C	GRCh38
NC_000007.13:g.5642897T>C , CM000669.1:g.5642897T>C	GRCh37
NC_000007.12:g.5609423T>C	NCBI36
NG_030004.1:g.15462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382361.8:c.842T>C MANE Select	ENSP00000371798.3:p.Leu281Pro
ENST00000382361.7:c.842T>C	ENSP00000371798.3:p.Leu281Pro
ENST00000405801.2:c.8T>C	ENSP00000383982.2:p.Leu3Pro
ENST00000444748.5:c.8T>C	ENSP00000404506.1:p.Leu3Pro
ENST00000447103.5:c.8T>C	ENSP00000409967.1:p.Leu3Pro
ENST00000473330.1:n.395T>C
NM_003088.3:c.842T>C	NP_003079.1:p.Leu281Pro
NM_003088.4:c.842T>C MANE Select	NP_003079.1:p.Leu281Pro