Canonical Allele Identifier: CA123307
Gene: MTHFD1 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.64425752G>A
GRCh37 chr14:g.64892470G>A
Revel Score:
ENST00000545908 0.242
ENST00000555709 0.242
ENST00000216605 0.242
ENST00000555252 0.242
gnomAD v2:
14:64892470 G / A
gnomAD v3:
14:64425752 G / A
gnomAD v4:
chr14-64425752-G-A
Joint Max Group AF 0.00305422 (NFE)
Genomes Max Group AF 0.00284228 (NFE)
Exomes Max Group AF 0.00304873 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64425752G>A , CM000676.2:g.64425752G>A GRCh38
NC_000014.8:g.64892470G>A , CM000676.1:g.64892470G>A GRCh37
NC_000014.7:g.63962223G>A NCBI36
NG_012450.1:g.42712G>A
NG_012450.2:g.42712G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555858.2:n.1027G>A
ENST00000557539.2:c.635G>A ENSP00000476468.2:p.Arg212His
ENST00000697166.1:n.1027G>A
ENST00000697167.1:c.878G>A ENSP00000513155.1:p.Arg293His
ENST00000697168.1:c.878G>A ENSP00000513156.1:p.Arg293His
ENST00000697169.1:c.878G>A ENSP00000513157.1:p.Arg293His
ENST00000697170.1:n.1027G>A
ENST00000697171.1:c.878G>A ENSP00000513158.1:p.Arg293His
ENST00000697173.1:c.635G>A ENSP00000513159.1:p.Arg212His
ENST00000697174.1:c.629G>A ENSP00000513160.1:p.Arg210His
ENST00000697175.1:c.635G>A ENSP00000513161.1:p.Arg212His
ENST00000697176.1:c.635G>A ENSP00000513162.1:p.Arg212His
ENST00000545908.6:c.878G>A ENSP00000438588.2:p.Arg293His
ENST00000554768.6:c.635G>A ENSP00000477501.2:p.Arg212His
ENST00000555709.7:c.*255G>A ENSP00000450560.3:n.*255G>A
ENST00000557370.3:c.878G>A ENSP00000477199.2:p.Arg293His
ENST00000650853.1:n.953G>A
ENST00000651537.1:c.878G>A ENSP00000498511.1:p.Arg293His
ENST00000652179.1:c.635G>A ENSP00000498649.1:p.Arg212His
ENST00000652337.1:c.878G>A MANE Select ENSP00000498336.1:p.Arg293His
ENST00000652509.1:c.111G>A
ENST00000216605.12:c.878G>A ENSP00000216605.8:p.Arg293His
ENST00000545908.5:c.1046G>A ENSP00000438588.1:p.Arg349His
ENST00000553391.2:n.182G>A
ENST00000554057.5:n.311G>A
ENST00000555252.5:n.935G>A
NM_005956.3:c.878G>A NP_005947.3:p.Arg293His
NM_001364837.1:c.878G>A NP_001351766.1:p.Arg293His
NM_005956.4:c.878G>A MANE Select NP_005947.3:p.Arg293His
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