Canonical Allele Identifier: CA453640072

Gene: FSCN1

Linked Data

• gnomAD v4: 7-5603532-C-T
• MyVariant Identifiers: chr7:g.5643163C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5603532C>T , CM000669.2:g.5603532C>T	GRCh38
NC_000007.13:g.5643163C>T , CM000669.1:g.5643163C>T	GRCh37
NC_000007.12:g.5609689C>T	NCBI36
NG_030004.1:g.15728C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382361.8:c.1026C>T MANE Select	ENSP00000371798.3:p.Asp342=
ENST00000382361.7:c.1026C>T	ENSP00000371798.3:p.Asp342=
ENST00000405801.2:c.192C>T	ENSP00000383982.2:p.Asp64=
ENST00000444748.5:c.192C>T	ENSP00000404506.1:p.Asp64=
ENST00000447103.5:c.192C>T	ENSP00000409967.1:p.Asp64=
ENST00000473330.1:n.579C>T
NM_003088.3:c.1026C>T	NP_003079.1:p.Asp342=
NM_003088.4:c.1026C>T MANE Select	NP_003079.1:p.Asp342=