Canonical Allele Identifier: CA4147442
Gene: FSCN1 HGNC NCBI

Linked Data

dbSNP Id: rs764782255
gnomAD v2: 7-5642889-T-C
gnomAD v3: 7-5603258-T-C
gnomAD v4: 7-5603258-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5603258T>C , CM000669.2:g.5603258T>C GRCh38
NC_000007.13:g.5642889T>C , CM000669.1:g.5642889T>C GRCh37
NC_000007.12:g.5609415T>C NCBI36
NG_030004.1:g.15454T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382361.8:c.834T>C MANE Select ENSP00000371798.3:p.Gly278=
ENST00000382361.7:c.834T>C ENSP00000371798.3:p.Gly278=
ENST00000405801.2:c.-1T>C ENSP00000383982.2:n.-1T>C
ENST00000444748.5:c.-1T>C ENSP00000404506.1:n.-1T>C
ENST00000447103.5:c.-1T>C ENSP00000409967.1:n.-1T>C
ENST00000473330.1:n.387T>C
NM_003088.3:c.834T>C NP_003079.1:p.Gly278=
NM_003088.4:c.834T>C MANE Select NP_003079.1:p.Gly278=