Canonical Allele Identifier: CA389967376

Gene: MTHFD1

Linked Data

• gnomAD v4: 14-64411108-T-G
• MyVariant Identifiers: chr14:g.64877826T>G (hg19) ; chr14:g.64411108T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64411108T>G , CM000676.2:g.64411108T>G	GRCh38
NC_000014.8:g.64877826T>G , CM000676.1:g.64877826T>G	GRCh37
NC_000014.7:g.63947579T>G	NCBI36
NG_012450.1:g.28068T>G
NG_012450.2:g.28068T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555858.2:n.294T>G
ENST00000557539.2:c.-99T>G	ENSP00000476468.2:n.-99T>G
ENST00000697166.1:n.294T>G
ENST00000697167.1:c.145T>G	ENSP00000513155.1:p.Ser49Ala
ENST00000697168.1:c.145T>G	ENSP00000513156.1:p.Ser49Ala
ENST00000697169.1:c.145T>G	ENSP00000513157.1:p.Ser49Ala
ENST00000697170.1:n.294T>G
ENST00000697171.1:c.145T>G	ENSP00000513158.1:p.Ser49Ala
ENST00000697173.1:c.-99T>G	ENSP00000513159.1:n.-99T>G
ENST00000697174.1:c.145T>G	ENSP00000513160.1:p.Ser49Ala
ENST00000697175.1:c.-235T>G	ENSP00000513161.1:n.-235T>G
ENST00000697176.1:c.-99T>G	ENSP00000513162.1:n.-99T>G
ENST00000545908.6:c.145T>G	ENSP00000438588.2:p.Ser49Ala
ENST00000554768.6:c.-99T>G	ENSP00000477501.2:n.-99T>G
ENST00000555709.7:c.145T>G	ENSP00000450560.3:p.Ser49Ala
ENST00000557370.3:c.145T>G	ENSP00000477199.2:p.Ser49Ala
ENST00000650853.1:n.220T>G
ENST00000651537.1:c.145T>G	ENSP00000498511.1:p.Ser49Ala
ENST00000652179.1:c.-99T>G	ENSP00000498649.1:n.-99T>G
ENST00000652337.1:c.145T>G MANE Select	ENSP00000498336.1:p.Ser49Ala
ENST00000216605.12:c.145T>G	ENSP00000216605.8:p.Ser49Ala
ENST00000545908.5:c.313T>G	ENSP00000438588.1:p.Ser105Ala
ENST00000554739.5:c.-99T>G	ENSP00000477359.1:n.-99T>G
ENST00000554768.5:c.-99T>G	ENSP00000477501.1:n.-99T>G
ENST00000555252.5:n.244-1364T>G
ENST00000555709.6:c.313T>G	ENSP00000450560.2:p.Ser105Ala
ENST00000557539.1:c.-99T>G	ENSP00000476468.1:n.-99T>G
NM_005956.3:c.145T>G	NP_005947.3:p.Ser49Ala
NM_001364837.1:c.145T>G	NP_001351766.1:p.Ser49Ala
NM_005956.4:c.145T>G MANE Select	NP_005947.3:p.Ser49Ala