Canonical Allele Identifier: CA7613280

Gene: MTFMT

Linked Data

• ClinVar Variation Id: 418337
• ClinVar RCV Id: RCV000480605
• dbSNP Id: rs372732702
• ExAC: 15:65312587 C / A
• gnomAD v2: 15-65312587-C-A
• gnomAD v3: 15-65020249-C-A
• gnomAD v4: 15-65020249-C-A
• MyVariant Identifiers: chr15:g.65312587C>A (hg19) ; chr15:g.65020249C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65020249C>A , CM000677.2:g.65020249C>A	GRCh38
NC_000015.9:g.65312587C>A , CM000677.1:g.65312587C>A	GRCh37
NC_000015.8:g.63099640C>A	NCBI36
NG_029184.1:g.14391G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000220058.9:c.669G>T MANE Select	ENSP00000220058.4:p.Leu223Phe
ENST00000220058.8:c.669G>T	ENSP00000220058.4:p.Leu223Phe
ENST00000543678.1:c.*8G>T	ENSP00000443754.1:n.*8G>T
ENST00000558460.5:c.669G>T	ENSP00000452646.1:p.Leu223Phe
ENST00000558614.1:n.527G>T
ENST00000560717.5:c.544G>T	ENSP00000457257.1:n.544G>T
NM_139242.3:c.669G>T	NP_640335.2:p.Leu223Phe
XM_005254158.3:c.414G>T	XP_005254215.1:p.Leu138Phe
XM_005254158.5:c.822G>T	XP_005254215.2:p.Leu274Phe
XR_001751081.1:n.734G>T
NM_139242.4:c.669G>T MANE Select	NP_640335.2:p.Leu223Phe