Canonical Allele Identifier: CA366723137

Gene: FSCN1

Linked Data

• MyVariant Identifiers: chr7:g.5642930A>T (hg19) ; chr7:g.5603299A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5603299A>T , CM000669.2:g.5603299A>T	GRCh38
NC_000007.13:g.5642930A>T , CM000669.1:g.5642930A>T	GRCh37
NC_000007.12:g.5609456A>T	NCBI36
NG_030004.1:g.15495A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382361.8:c.875A>T MANE Select	ENSP00000371798.3:p.Glu292Val
ENST00000382361.7:c.875A>T	ENSP00000371798.3:p.Glu292Val
ENST00000405801.2:c.41A>T	ENSP00000383982.2:p.Glu14Val
ENST00000444748.5:c.41A>T	ENSP00000404506.1:p.Glu14Val
ENST00000447103.5:c.41A>T	ENSP00000409967.1:p.Glu14Val
ENST00000473330.1:n.428A>T
NM_003088.3:c.875A>T	NP_003079.1:p.Glu292Val
NM_003088.4:c.875A>T MANE Select	NP_003079.1:p.Glu292Val