Canonical Allele Identifier: CA10633387

Gene: TSFM

Linked Data

• ClinVar Variation Id: 310024
• ClinVar RCV Id: RCV000301050
• dbSNP Id: rs758314098
• gnomAD v2: 12-58190628-T-A
• gnomAD v3: 12-57796845-T-A
• gnomAD v4: 12-57796845-T-A
• MyVariant Identifiers: chr12:g.58190628T>A (hg19) ; chr12:g.57796845T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57796845T>A , CM000674.2:g.57796845T>A	GRCh38
NC_000012.11:g.58190628T>A , CM000674.1:g.58190628T>A	GRCh37
NC_000012.10:g.56476895T>A	NCBI36
NG_016971.1:g.19101T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000651066.1:c.*1382T>A	ENSP00000499143.1:n.*1382T>A
ENST00000651284.1:c.*869T>A	ENSP00000499064.1:n.*869T>A
ENST00000652027.2:c.*262T>A MANE Select	ENSP00000499171.2:n.*262T>A
ENST00000454289.7:c.*262T>A	ENSP00000388330.2:n.*262T>A
ENST00000540550.6:c.*648T>A	ENSP00000440987.1:n.*648T>A
ENST00000543727.5:c.571+3772T>A	ENSP00000439342.1:n.571+3772T>A
ENST00000548851.5:c.571+3772T>A	ENSP00000450041.1:n.571+3772T>A
ENST00000550559.5:c.571+3772T>A	ENSP00000448575.1:n.571+3772T>A
NM_001172695.1:c.*648T>A	NP_001166166.1:n.*648T>A
NM_001172696.1:c.*262T>A	NP_001166167.1:n.*262T>A
NM_001172697.1:c.571+3772T>A	NP_001166168.1:n.571+3772T>A
NM_005726.5:c.*262T>A	NP_005717.3:n.*262T>A
NM_001172695.2:c.*648T>A	NP_001166166.1:n.*648T>A
NM_001172696.2:c.*262T>A	NP_001166167.1:n.*262T>A
NM_005726.6:c.*262T>A MANE Select	NP_005717.3:n.*262T>A
NM_001172697.2:c.571+3772T>A	NP_001166168.1:n.571+3772T>A