Canonical Allele Identifier: CA4147426

Gene: FSCN1

Linked Data

• dbSNP Id: rs59162058
• ExAC: 7:5642848 C / T
• gnomAD v2: 7-5642848-C-T
• gnomAD v3: 7-5603217-C-T
• gnomAD v4: 7-5603217-C-T
• MyVariant Identifiers: chr7:g.5642848C>T (hg19) ; chr7:g.5603217C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5603217C>T , CM000669.2:g.5603217C>T	GRCh38
NC_000007.13:g.5642848C>T , CM000669.1:g.5642848C>T	GRCh37
NC_000007.12:g.5609374C>T	NCBI36
NG_030004.1:g.15413C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382361.8:c.833-40C>T MANE Select	ENSP00000371798.3:n.833-40C>T
ENST00000382361.7:c.833-40C>T	ENSP00000371798.3:n.833-40C>T
ENST00000405801.2:c.-2-40C>T	ENSP00000383982.2:n.-2-40C>T
ENST00000444748.5:c.-2-40C>T	ENSP00000404506.1:n.-2-40C>T
ENST00000447103.5:c.-2-40C>T	ENSP00000409967.1:n.-2-40C>T
ENST00000473330.1:n.346C>T
NM_003088.3:c.833-40C>T	NP_003079.1:n.833-40C>T
NM_003088.4:c.833-40C>T MANE Select	NP_003079.1:n.833-40C>T