Canonical Allele Identifier: CA385532231

Gene: TSFM

Linked Data

• ClinVar Variation Id: 2037846
• ClinVar RCV Id: RCV002890270
• dbSNP Id: rs768718007
• gnomAD v3: 12-57796540-G-T
• gnomAD v4: 12-57796540-G-T
• MyVariant Identifiers: chr12:g.58190323G>T (hg19) ; chr12:g.57796540G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57796540G>T , CM000674.2:g.57796540G>T	GRCh38
NC_000012.11:g.58190323G>T , CM000674.1:g.58190323G>T	GRCh37
NC_000012.10:g.56476590G>T	NCBI36
NG_016971.1:g.18796G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000651066.1:c.*1077G>T	ENSP00000499143.1:n.*1077G>T
ENST00000651284.1:c.*564G>T	ENSP00000499064.1:n.*564G>T
ENST00000651899.1:c.*476G>T	ENSP00000498993.1:n.*476G>T
ENST00000652027.2:c.935G>T MANE Select	ENSP00000499171.2:p.Arg312Leu
ENST00000323833.12:c.998G>T	ENSP00000313877.8:p.Arg333Leu
ENST00000454289.7:c.935G>T	ENSP00000388330.2:p.Arg312Leu
ENST00000540550.6:c.*343G>T	ENSP00000440987.1:n.*343G>T
ENST00000543727.5:c.571+3467G>T	ENSP00000439342.1:n.571+3467G>T
ENST00000548851.5:c.571+3467G>T	ENSP00000450041.1:n.571+3467G>T
ENST00000550559.5:c.571+3467G>T	ENSP00000448575.1:n.571+3467G>T
NM_001172695.1:c.*343G>T	NP_001166166.1:n.*343G>T
NM_001172696.1:c.998G>T	NP_001166167.1:p.Arg333Leu
NM_001172697.1:c.571+3467G>T	NP_001166168.1:n.571+3467G>T
NM_005726.5:c.935G>T	NP_005717.3:p.Arg312Leu
NM_001172695.2:c.*343G>T	NP_001166166.1:n.*343G>T
NM_001172696.2:c.998G>T	NP_001166167.1:p.Arg333Leu
NM_005726.6:c.935G>T MANE Select	NP_005717.3:p.Arg312Leu
NM_001172697.2:c.571+3467G>T	NP_001166168.1:n.571+3467G>T