Canonical Allele Identifier: CA6659481

Gene: TSFM

Linked Data

• ClinVar Variation Id: 2169960
• ClinVar RCV Id: RCV003085094
• dbSNP Id: rs370807776
• ExAC: 12:58190329 A / G
• gnomAD v2: 12-58190329-A-G
• gnomAD v3: 12-57796546-A-G
• gnomAD v4: 12-57796546-A-G
• COSMIC: COSM4147349 ; COSM4147350 ; COSM4147351
• MyVariant Identifiers: chr12:g.58190329A>G (hg19) ; chr12:g.57796546A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57796546A>G , CM000674.2:g.57796546A>G	GRCh38
NC_000012.11:g.58190329A>G , CM000674.1:g.58190329A>G	GRCh37
NC_000012.10:g.56476596A>G	NCBI36
NG_016971.1:g.18802A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000651066.1:c.*1083A>G	ENSP00000499143.1:n.*1083A>G
ENST00000651284.1:c.*570A>G	ENSP00000499064.1:n.*570A>G
ENST00000651899.1:c.*482A>G	ENSP00000498993.1:n.*482A>G
ENST00000652027.2:c.941A>G MANE Select	ENSP00000499171.2:p.Glu314Gly
ENST00000323833.12:c.1004A>G	ENSP00000313877.8:p.Glu335Gly
ENST00000454289.7:c.941A>G	ENSP00000388330.2:p.Glu314Gly
ENST00000540550.6:c.*349A>G	ENSP00000440987.1:n.*349A>G
ENST00000543727.5:c.571+3473A>G	ENSP00000439342.1:n.571+3473A>G
ENST00000548851.5:c.571+3473A>G	ENSP00000450041.1:n.571+3473A>G
ENST00000550559.5:c.571+3473A>G	ENSP00000448575.1:n.571+3473A>G
NM_001172695.1:c.*349A>G	NP_001166166.1:n.*349A>G
NM_001172696.1:c.1004A>G	NP_001166167.1:p.Glu335Gly
NM_001172697.1:c.571+3473A>G	NP_001166168.1:n.571+3473A>G
NM_005726.5:c.941A>G	NP_005717.3:p.Glu314Gly
NM_001172695.2:c.*349A>G	NP_001166166.1:n.*349A>G
NM_001172696.2:c.1004A>G	NP_001166167.1:p.Glu335Gly
NM_005726.6:c.941A>G MANE Select	NP_005717.3:p.Glu314Gly
NM_001172697.2:c.571+3473A>G	NP_001166168.1:n.571+3473A>G