Canonical Allele Identifier: CA480404807

Gene: TSFM

Linked Data

• gnomAD v4: 12-57796539-C-A
• MyVariant Identifiers: chr12:g.58190322C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57796539C>A , CM000674.2:g.57796539C>A	GRCh38
NC_000012.11:g.58190322C>A , CM000674.1:g.58190322C>A	GRCh37
NC_000012.10:g.56476589C>A	NCBI36
NG_016971.1:g.18795C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000651066.1:c.*1076C>A	ENSP00000499143.1:n.*1076C>A
ENST00000651284.1:c.*563C>A	ENSP00000499064.1:n.*563C>A
ENST00000651899.1:c.*475C>A	ENSP00000498993.1:n.*475C>A
ENST00000652027.2:c.934C>A MANE Select	ENSP00000499171.2:p.Arg312=
ENST00000323833.12:c.997C>A	ENSP00000313877.8:p.Arg333=
ENST00000454289.7:c.934C>A	ENSP00000388330.2:p.Arg312=
ENST00000540550.6:c.*342C>A	ENSP00000440987.1:n.*342C>A
ENST00000543727.5:c.571+3466C>A	ENSP00000439342.1:n.571+3466C>A
ENST00000548851.5:c.571+3466C>A	ENSP00000450041.1:n.571+3466C>A
ENST00000550559.5:c.571+3466C>A	ENSP00000448575.1:n.571+3466C>A
NM_001172695.1:c.*342C>A	NP_001166166.1:n.*342C>A
NM_001172696.1:c.997C>A	NP_001166167.1:p.Arg333=
NM_001172697.1:c.571+3466C>A	NP_001166168.1:n.571+3466C>A
NM_005726.5:c.934C>A	NP_005717.3:p.Arg312=
NM_001172695.2:c.*342C>A	NP_001166166.1:n.*342C>A
NM_001172696.2:c.997C>A	NP_001166167.1:p.Arg333=
NM_005726.6:c.934C>A MANE Select	NP_005717.3:p.Arg312=
NM_001172697.2:c.571+3466C>A	NP_001166168.1:n.571+3466C>A