Canonical Allele Identifier: CA385530955

Gene: TSFM

Linked Data

• dbSNP Id: rs1325330123
• gnomAD v2: 12-58190134-T-G
• gnomAD v4: 12-57796351-T-G
• MyVariant Identifiers: chr12:g.58190134T>G (hg19) ; chr12:g.57796351T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57796351T>G , CM000674.2:g.57796351T>G	GRCh38
NC_000012.11:g.58190134T>G , CM000674.1:g.58190134T>G	GRCh37
NC_000012.10:g.56476401T>G	NCBI36
NG_016971.1:g.18607T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651066.1:c.*888T>G	ENSP00000499143.1:n.*888T>G
ENST00000651284.1:c.*375T>G	ENSP00000499064.1:n.*375T>G
ENST00000651899.1:c.*287T>G	ENSP00000498993.1:n.*287T>G
ENST00000652027.2:c.746T>G MANE Select	ENSP00000499171.2:p.Leu249Arg
ENST00000323833.12:c.809T>G	ENSP00000313877.8:p.Leu270Arg
ENST00000454289.7:c.746T>G	ENSP00000388330.2:p.Leu249Arg
ENST00000497617.1:n.754T>G
ENST00000540550.6:c.*154T>G	ENSP00000440987.1:n.*154T>G
ENST00000543727.5:c.571+3278T>G	ENSP00000439342.1:n.571+3278T>G
ENST00000548851.5:c.571+3278T>G	ENSP00000450041.1:n.571+3278T>G
ENST00000550559.5:c.571+3278T>G	ENSP00000448575.1:n.571+3278T>G
NM_001172695.1:c.*154T>G	NP_001166166.1:n.*154T>G
NM_001172696.1:c.809T>G	NP_001166167.1:p.Leu270Arg
NM_001172697.1:c.571+3278T>G	NP_001166168.1:n.571+3278T>G
NM_005726.5:c.746T>G	NP_005717.3:p.Leu249Arg
NM_001172695.2:c.*154T>G	NP_001166166.1:n.*154T>G
NM_001172696.2:c.809T>G	NP_001166167.1:p.Leu270Arg
NM_005726.6:c.746T>G MANE Select	NP_005717.3:p.Leu249Arg
NM_001172697.2:c.571+3278T>G	NP_001166168.1:n.571+3278T>G