Canonical Allele Identifier: CA2142667412

Gene: MTHFD1

Linked Data

• dbSNP Id: rs1185196714

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64415596C>A , CM000676.2:g.64415596C>A	GRCh38
NC_000014.8:g.64882314C>A , CM000676.1:g.64882314C>A	GRCh37
NC_000014.7:g.63952067C>A	NCBI36
NG_012450.1:g.32556C>A
NG_012450.2:g.32556C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000555858.2:n.527-43C>A
ENST00000557539.2:c.135-43C>A	ENSP00000476468.2:n.135-43C>A
ENST00000697166.1:n.527-43C>A
ENST00000697167.1:c.378-43C>A	ENSP00000513155.1:n.378-43C>A
ENST00000697168.1:c.378-43C>A	ENSP00000513156.1:n.378-43C>A
ENST00000697169.1:c.378-43C>A	ENSP00000513157.1:n.378-43C>A
ENST00000697170.1:n.527-43C>A
ENST00000697171.1:c.378-43C>A	ENSP00000513158.1:n.378-43C>A
ENST00000697173.1:c.135-43C>A	ENSP00000513159.1:n.135-43C>A
ENST00000697174.1:c.378-43C>A	ENSP00000513160.1:n.378-43C>A
ENST00000697175.1:c.135-43C>A	ENSP00000513161.1:n.135-43C>A
ENST00000697176.1:c.135-43C>A	ENSP00000513162.1:n.135-43C>A
ENST00000545908.6:c.378-43C>A	ENSP00000438588.2:n.378-43C>A
ENST00000554768.6:c.135-43C>A	ENSP00000477501.2:n.135-43C>A
ENST00000555709.7:c.378-43C>A	ENSP00000450560.3:n.378-43C>A
ENST00000557370.3:c.378-43C>A	ENSP00000477199.2:n.378-43C>A
ENST00000650853.1:n.453-43C>A
ENST00000651537.1:c.378-43C>A	ENSP00000498511.1:n.378-43C>A
ENST00000652179.1:c.135-43C>A	ENSP00000498649.1:n.135-43C>A
ENST00000652337.1:c.378-43C>A MANE Select	ENSP00000498336.1:n.378-43C>A
ENST00000216605.12:c.378-43C>A	ENSP00000216605.8:n.378-43C>A
ENST00000545908.5:c.546-43C>A	ENSP00000438588.1:n.546-43C>A
ENST00000555252.5:n.435-43C>A
ENST00000555709.6:c.546-43C>A	ENSP00000450560.2:n.546-43C>A
ENST00000557539.1:c.135-43C>A	ENSP00000476468.1:n.135-43C>A
NM_005956.3:c.378-43C>A	NP_005947.3:n.378-43C>A
NM_001364837.1:c.378-43C>A	NP_001351766.1:n.378-43C>A
NM_005956.4:c.378-43C>A MANE Select	NP_005947.3:n.378-43C>A