Canonical Allele Identifier: CA389967305

Gene: MTHFD1

Linked Data

• gnomAD v4: 14-64411100-G-T
• MyVariant Identifiers: chr14:g.64877818G>T (hg19) ; chr14:g.64411100G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64411100G>T , CM000676.2:g.64411100G>T	GRCh38
NC_000014.8:g.64877818G>T , CM000676.1:g.64877818G>T	GRCh37
NC_000014.7:g.63947571G>T	NCBI36
NG_012450.1:g.28060G>T
NG_012450.2:g.28060G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555858.2:n.286G>T
ENST00000557539.2:c.-107G>T	ENSP00000476468.2:n.-107G>T
ENST00000697166.1:n.286G>T
ENST00000697167.1:c.137G>T	ENSP00000513155.1:p.Arg46Ile
ENST00000697168.1:c.137G>T	ENSP00000513156.1:p.Arg46Ile
ENST00000697169.1:c.137G>T	ENSP00000513157.1:p.Arg46Ile
ENST00000697170.1:n.286G>T
ENST00000697171.1:c.137G>T	ENSP00000513158.1:p.Arg46Ile
ENST00000697173.1:c.-107G>T	ENSP00000513159.1:n.-107G>T
ENST00000697174.1:c.137G>T	ENSP00000513160.1:p.Arg46Ile
ENST00000697175.1:c.-243G>T	ENSP00000513161.1:n.-243G>T
ENST00000697176.1:c.-107G>T	ENSP00000513162.1:n.-107G>T
ENST00000545908.6:c.137G>T	ENSP00000438588.2:p.Arg46Ile
ENST00000554768.6:c.-107G>T	ENSP00000477501.2:n.-107G>T
ENST00000555709.7:c.137G>T	ENSP00000450560.3:p.Arg46Ile
ENST00000557370.3:c.137G>T	ENSP00000477199.2:p.Arg46Ile
ENST00000650853.1:n.212G>T
ENST00000651537.1:c.137G>T	ENSP00000498511.1:p.Arg46Ile
ENST00000652179.1:c.-107G>T	ENSP00000498649.1:n.-107G>T
ENST00000652337.1:c.137G>T MANE Select	ENSP00000498336.1:p.Arg46Ile
ENST00000216605.12:c.137G>T	ENSP00000216605.8:p.Arg46Ile
ENST00000545908.5:c.305G>T	ENSP00000438588.1:p.Arg102Ile
ENST00000554739.5:c.-107G>T	ENSP00000477359.1:n.-107G>T
ENST00000554768.5:c.-107G>T	ENSP00000477501.1:n.-107G>T
ENST00000555252.5:n.244-1372G>T
ENST00000555709.6:c.305G>T	ENSP00000450560.2:p.Arg102Ile
ENST00000557539.1:c.-107G>T	ENSP00000476468.1:n.-107G>T
NM_005956.3:c.137G>T	NP_005947.3:p.Arg46Ile
NM_001364837.1:c.137G>T	NP_001351766.1:p.Arg46Ile
NM_005956.4:c.137G>T MANE Select	NP_005947.3:p.Arg46Ile