Canonical Allele Identifier: CA271504923

Gene: MTFMT

Linked Data

• ClinVar Variation Id: 1347875
• ClinVar RCV Id: RCV002050698
• dbSNP Id: rs1035884059
• gnomAD v2: 15-65321945-C-T
• gnomAD v3: 15-65029607-C-T
• gnomAD v4: 15-65029607-C-T
• MyVariant Identifiers: chr15:g.65321945C>T (hg19) ; chr15:g.65029607C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029607C>T , CM000677.2:g.65029607C>T	GRCh38
NC_000015.9:g.65321945C>T , CM000677.1:g.65321945C>T	GRCh37
NC_000015.8:g.63108998C>T	NCBI36
NG_029184.1:g.5033G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.7G>A MANE Select	ENSP00000220058.4:p.Val3Met
ENST00000220058.8:c.7G>A	ENSP00000220058.4:p.Val3Met
ENST00000543678.1:c.7G>A	ENSP00000443754.1:p.Val3Met
ENST00000558460.5:c.7G>A	ENSP00000452646.1:p.Val3Met
NM_139242.3:c.7G>A	NP_640335.2:p.Val3Met
XM_005254158.5:c.7G>A	XP_005254215.2:p.Val3Met
XR_001751081.1:n.22G>A
NM_139242.4:c.7G>A MANE Select	NP_640335.2:p.Val3Met