Canonical Allele Identifier: CA453639962

Gene: FSCN1

Linked Data

• dbSNP Id: rs1168277107
• gnomAD v2: 7-5643036-C-T
• gnomAD v4: 7-5603405-C-T
• MyVariant Identifiers: chr7:g.5643036C>T (hg19) ; chr7:g.5603405C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5603405C>T , CM000669.2:g.5603405C>T	GRCh38
NC_000007.13:g.5643036C>T , CM000669.1:g.5643036C>T	GRCh37
NC_000007.12:g.5609562C>T	NCBI36
NG_030004.1:g.15601C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382361.8:c.981C>T MANE Select	ENSP00000371798.3:p.Ala327=
ENST00000382361.7:c.981C>T	ENSP00000371798.3:p.Ala327=
ENST00000405801.2:c.147C>T	ENSP00000383982.2:p.Ala49=
ENST00000444748.5:c.147C>T	ENSP00000404506.1:p.Ala49=
ENST00000447103.5:c.147C>T	ENSP00000409967.1:p.Ala49=
ENST00000473330.1:n.534C>T
NM_003088.3:c.981C>T	NP_003079.1:p.Ala327=
NM_003088.4:c.981C>T MANE Select	NP_003079.1:p.Ala327=