Canonical Allele Identifier: CA4147430
Gene: FSCN1 HGNC NCBI

Linked Data

dbSNP Id: rs374393905
gnomAD v2: 7-5642852-G-C
gnomAD v3: 7-5603221-G-C
gnomAD v4: 7-5603221-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5603221G>C , CM000669.2:g.5603221G>C GRCh38
NC_000007.13:g.5642852G>C , CM000669.1:g.5642852G>C GRCh37
NC_000007.12:g.5609378G>C NCBI36
NG_030004.1:g.15417G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382361.8:c.833-36G>C MANE Select ENSP00000371798.3:n.833-36G>C
ENST00000382361.7:c.833-36G>C ENSP00000371798.3:n.833-36G>C
ENST00000405801.2:c.-2-36G>C ENSP00000383982.2:n.-2-36G>C
ENST00000444748.5:c.-2-36G>C ENSP00000404506.1:n.-2-36G>C
ENST00000447103.5:c.-2-36G>C ENSP00000409967.1:n.-2-36G>C
ENST00000473330.1:n.350G>C
NM_003088.3:c.833-36G>C NP_003079.1:n.833-36G>C
NM_003088.4:c.833-36G>C MANE Select NP_003079.1:n.833-36G>C