Canonical Allele Identifier: CA4147444
Gene: FSCN1 HGNC NCBI

Linked Data

dbSNP Id: rs762600992
ExAC: 7:5642896 C / T
gnomAD v2: 7-5642896-C-T
gnomAD v4: 7-5603265-C-T
MyVariant Identifiers: chr7:g.5642896C>T (hg19) chr7:g.5603265C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5603265C>T , CM000669.2:g.5603265C>T GRCh38
NC_000007.13:g.5642896C>T , CM000669.1:g.5642896C>T GRCh37
NC_000007.12:g.5609422C>T NCBI36
NG_030004.1:g.15461C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382361.8:c.841C>T MANE Select ENSP00000371798.3:p.Leu281=
ENST00000382361.7:c.841C>T ENSP00000371798.3:p.Leu281=
ENST00000405801.2:c.7C>T ENSP00000383982.2:p.Leu3=
ENST00000444748.5:c.7C>T ENSP00000404506.1:p.Leu3=
ENST00000447103.5:c.7C>T ENSP00000409967.1:p.Leu3=
ENST00000473330.1:n.394C>T
NM_003088.3:c.841C>T NP_003079.1:p.Leu281=
NM_003088.4:c.841C>T MANE Select NP_003079.1:p.Leu281=
Search 100 bp 5'
Search 100 bp 3'