Canonical Allele Identifier: CA170669

Gene: TSFM

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57796461C>T , CM000674.2:g.57796461C>T	GRCh38
NC_000012.11:g.58190244C>T , CM000674.1:g.58190244C>T	GRCh37
NC_000012.10:g.56476511C>T	NCBI36
NG_016971.1:g.18717C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005726.6:c.856C>T MANE Select	NP_005717.3:p.Gln286Ter
ENST00000652027.2:c.856C>T MANE Select	ENSP00000499171.2:p.Gln286Ter
NM_001172695.1:c.*264C>T	NP_001166166.1:n.*264C>T
NM_001172695.2:c.*264C>T	NP_001166166.1:n.*264C>T
NM_001172696.1:c.919C>T	NP_001166167.1:p.Gln307Ter
NM_001172696.2:c.919C>T	NP_001166167.1:p.Gln307Ter
NM_001172697.1:c.571+3388C>T	NP_001166168.1:n.571+3388C>T
NM_001172697.2:c.571+3388C>T	NP_001166168.1:n.571+3388C>T
NM_005726.5:c.856C>T	NP_005717.3:p.Gln286Ter
ENST00000323833.12:c.919C>T	ENSP00000313877.8:p.Gln307Ter
ENST00000454289.7:c.856C>T	ENSP00000388330.2:p.Gln286Ter
ENST00000540550.6:c.*264C>T	ENSP00000440987.1:n.*264C>T
ENST00000543727.5:c.571+3388C>T	ENSP00000439342.1:n.571+3388C>T
ENST00000548851.5:c.571+3388C>T	ENSP00000450041.1:n.571+3388C>T
ENST00000550559.5:c.571+3388C>T	ENSP00000448575.1:n.571+3388C>T
ENST00000651066.1:c.*998C>T	ENSP00000499143.1:n.*998C>T
ENST00000651284.1:c.*485C>T	ENSP00000499064.1:n.*485C>T
ENST00000651899.1:c.*397C>T	ENSP00000498993.1:n.*397C>T