Canonical Allele Identifier: CA153233287

Gene: FSCN1

Linked Data

• dbSNP Id: rs551699480
• gnomAD v2: 7-5642824-C-G
• gnomAD v3: 7-5603193-C-G
• gnomAD v4: 7-5603193-C-G
• MyVariant Identifiers: chr7:g.5642824C>G (hg19) ; chr7:g.5603193C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5603193C>G , CM000669.2:g.5603193C>G	GRCh38
NC_000007.13:g.5642824C>G , CM000669.1:g.5642824C>G	GRCh37
NC_000007.12:g.5609350C>G	NCBI36
NG_030004.1:g.15389C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382361.8:c.833-64C>G MANE Select	ENSP00000371798.3:n.833-64C>G
ENST00000382361.7:c.833-64C>G	ENSP00000371798.3:n.833-64C>G
ENST00000405801.2:c.-2-64C>G	ENSP00000383982.2:n.-2-64C>G
ENST00000444748.5:c.-2-64C>G	ENSP00000404506.1:n.-2-64C>G
ENST00000447103.5:c.-2-64C>G	ENSP00000409967.1:n.-2-64C>G
ENST00000473330.1:n.322C>G
NM_003088.3:c.833-64C>G	NP_003079.1:n.833-64C>G
NM_003088.4:c.833-64C>G MANE Select	NP_003079.1:n.833-64C>G