Canonical Allele Identifier: CA480404811

Gene: TSFM

Linked Data

• gnomAD v4: 12-57796544-T-C
• MyVariant Identifiers: chr12:g.58190327T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57796544T>C , CM000674.2:g.57796544T>C	GRCh38
NC_000012.11:g.58190327T>C , CM000674.1:g.58190327T>C	GRCh37
NC_000012.10:g.56476594T>C	NCBI36
NG_016971.1:g.18800T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000651066.1:c.*1081T>C	ENSP00000499143.1:n.*1081T>C
ENST00000651284.1:c.*568T>C	ENSP00000499064.1:n.*568T>C
ENST00000651899.1:c.*480T>C	ENSP00000498993.1:n.*480T>C
ENST00000652027.2:c.939T>C MANE Select	ENSP00000499171.2:p.Phe313=
ENST00000323833.12:c.1002T>C	ENSP00000313877.8:p.Phe334=
ENST00000454289.7:c.939T>C	ENSP00000388330.2:p.Phe313=
ENST00000540550.6:c.*347T>C	ENSP00000440987.1:n.*347T>C
ENST00000543727.5:c.571+3471T>C	ENSP00000439342.1:n.571+3471T>C
ENST00000548851.5:c.571+3471T>C	ENSP00000450041.1:n.571+3471T>C
ENST00000550559.5:c.571+3471T>C	ENSP00000448575.1:n.571+3471T>C
NM_001172695.1:c.*347T>C	NP_001166166.1:n.*347T>C
NM_001172696.1:c.1002T>C	NP_001166167.1:p.Phe334=
NM_001172697.1:c.571+3471T>C	NP_001166168.1:n.571+3471T>C
NM_005726.5:c.939T>C	NP_005717.3:p.Phe313=
NM_001172695.2:c.*347T>C	NP_001166166.1:n.*347T>C
NM_001172696.2:c.1002T>C	NP_001166167.1:p.Phe334=
NM_005726.6:c.939T>C MANE Select	NP_005717.3:p.Phe313=
NM_001172697.2:c.571+3471T>C	NP_001166168.1:n.571+3471T>C