Canonical Allele Identifier: CA7225779

Gene: MTHFD1

Linked Data

• dbSNP Id: rs1076991
• ExAC: 14:64855041 T / C
• gnomAD v2: 14-64855041-T-C
• gnomAD v3: 14-64388323-T-C
• gnomAD v4: 14-64388323-T-C
• MyVariant Identifiers: chr14:g.64855041T>C (hg19) ; chr14:g.64388323T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000555858.2:n.45T>C
ENST00000697166.1:n.45T>C
ENST00000697167.1:c.-105T>C	ENSP00000513155.1:n.-105T>C
ENST00000697168.1:c.-105T>C	ENSP00000513156.1:n.-105T>C
ENST00000697169.1:c.-105T>C	ENSP00000513157.1:n.-105T>C
ENST00000697170.1:n.45T>C
ENST00000697171.1:c.-105T>C	ENSP00000513158.1:n.-105T>C
ENST00000545908.6:c.-105T>C	ENSP00000438588.2:n.-105T>C
ENST00000554768.6:c.-473T>C	ENSP00000477501.2:n.-473T>C
ENST00000555709.7:c.-105T>C	ENSP00000450560.3:n.-105T>C
ENST00000652179.1:c.-928T>C	ENSP00000498649.1:n.-928T>C
ENST00000545908.5:c.64T>C	ENSP00000438588.1:p.Trp22Arg
ENST00000554739.5:c.-604T>C	ENSP00000477359.1:n.-604T>C
ENST00000554768.5:c.-473T>C	ENSP00000477501.1:n.-473T>C
ENST00000555252.5:n.13T>C
ENST00000555709.6:c.64T>C	ENSP00000450560.2:p.Trp22Arg
NM_005956.3:c.-105T>C	NP_005947.3:n.-105T>C