Canonical Allele Identifier: CA7225780
Gene: MTHFD1 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.64388323T>G
GRCh37 chr14:g.64855041T>G
Revel Score:
ENST00000545908 0.002
ENST00000216605 0.002
gnomAD v2:
14:64855041 T / G
gnomAD v3:
14:64388323 T / G
gnomAD v4:
chr14-64388323-T-G
Joint Max Group AF 0.00004378 (AFR)
Genomes Max Group AF 0.00006287 (AFR)
Exomes Max Group AF 3e-7 (NFE)
dbSNP:
1076991
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64388323T>G , CM000676.2:g.64388323T>G GRCh38
NC_000014.8:g.64855041T>G , CM000676.1:g.64855041T>G GRCh37
NC_000014.7:g.63924794T>G NCBI36
NG_012450.1:g.5283T>G
NG_012450.2:g.5283T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555858.2:n.45T>G
ENST00000697166.1:n.45T>G
ENST00000697167.1:c.-105T>G ENSP00000513155.1:n.-105T>G
ENST00000697168.1:c.-105T>G ENSP00000513156.1:n.-105T>G
ENST00000697169.1:c.-105T>G ENSP00000513157.1:n.-105T>G
ENST00000697170.1:n.45T>G
ENST00000697171.1:c.-105T>G ENSP00000513158.1:n.-105T>G
ENST00000545908.6:c.-105T>G ENSP00000438588.2:n.-105T>G
ENST00000554768.6:c.-473T>G ENSP00000477501.2:n.-473T>G
ENST00000555709.7:c.-105T>G ENSP00000450560.3:n.-105T>G
ENST00000652179.1:c.-928T>G ENSP00000498649.1:n.-928T>G
ENST00000545908.5:c.64T>G ENSP00000438588.1:p.Trp22Gly
ENST00000554739.5:c.-604T>G ENSP00000477359.1:n.-604T>G
ENST00000554768.5:c.-473T>G ENSP00000477501.1:n.-473T>G
ENST00000555252.5:n.13T>G
ENST00000555709.6:c.64T>G ENSP00000450560.2:p.Trp22Gly
NM_005956.3:c.-105T>G NP_005947.3:n.-105T>G
Search 100 bp 5'
Search 100 bp 3'