Canonical Allele Identifier: CA271504845

Gene: MTFMT

Linked Data

• ClinVar Variation Id: 2194227
• ClinVar RCV Id: RCV002637038 ; RCV004070683
• dbSNP Id: rs935174845
• gnomAD v2: 15-65321908-T-C
• gnomAD v3: 15-65029570-T-C
• gnomAD v4: 15-65029570-T-C
• MyVariant Identifiers: chr15:g.65321908T>C (hg19) ; chr15:g.65029570T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029570T>C , CM000677.2:g.65029570T>C	GRCh38
NC_000015.9:g.65321908T>C , CM000677.1:g.65321908T>C	GRCh37
NC_000015.8:g.63108961T>C	NCBI36
NG_029184.1:g.5070A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.44A>G MANE Select	ENSP00000220058.4:p.His15Arg
ENST00000220058.8:c.44A>G	ENSP00000220058.4:p.His15Arg
ENST00000543678.1:c.44A>G	ENSP00000443754.1:p.His15Arg
ENST00000558460.5:c.44A>G	ENSP00000452646.1:p.His15Arg
ENST00000558614.1:n.5A>G
ENST00000560717.5:c.29A>G	ENSP00000457257.1:p.His10Arg
NM_139242.3:c.44A>G	NP_640335.2:p.His15Arg
XM_005254158.5:c.44A>G	XP_005254215.2:p.His15Arg
XR_001751081.1:n.59A>G
NM_139242.4:c.44A>G MANE Select	NP_640335.2:p.His15Arg