Canonical Allele Identifier: CA248453

Gene: MTHFD1

Linked Data

• ClinVar Variation Id: 208193
• ClinVar RCV Id: RCV000190389 ; RCV001252952
• dbSNP Id: rs796064510
• MyVariant Identifiers: chr14:g.64891620G>C (hg19) ; chr14:g.64424902G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64424902G>C , CM000676.2:g.64424902G>C	GRCh38
NC_000014.8:g.64891620G>C , CM000676.1:g.64891620G>C	GRCh37
NC_000014.7:g.63961373G>C	NCBI36
NG_012450.1:g.41862G>C
NG_012450.2:g.41862G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555858.2:n.975G>C
ENST00000557539.2:c.583G>C	ENSP00000476468.2:p.Gly195Arg
ENST00000697166.1:n.975G>C
ENST00000697167.1:c.826G>C	ENSP00000513155.1:p.Gly276Arg
ENST00000697168.1:c.826G>C	ENSP00000513156.1:p.Gly276Arg
ENST00000697169.1:c.826G>C	ENSP00000513157.1:p.Gly276Arg
ENST00000697170.1:n.975G>C
ENST00000697171.1:c.826G>C	ENSP00000513158.1:p.Gly276Arg
ENST00000697173.1:c.583G>C	ENSP00000513159.1:p.Gly195Arg
ENST00000697174.1:c.577G>C	ENSP00000513160.1:p.Gly193Arg
ENST00000697175.1:c.583G>C	ENSP00000513161.1:p.Gly195Arg
ENST00000697176.1:c.583G>C	ENSP00000513162.1:p.Gly195Arg
ENST00000545908.6:c.826G>C	ENSP00000438588.2:p.Gly276Arg
ENST00000554768.6:c.583G>C	ENSP00000477501.2:p.Gly195Arg
ENST00000555709.7:c.*203G>C	ENSP00000450560.3:n.*203G>C
ENST00000557370.3:c.826G>C	ENSP00000477199.2:p.Gly276Arg
ENST00000650853.1:n.901G>C
ENST00000651537.1:c.826G>C	ENSP00000498511.1:p.Gly276Arg
ENST00000652179.1:c.583G>C	ENSP00000498649.1:p.Gly195Arg
ENST00000652337.1:c.826G>C MANE Select	ENSP00000498336.1:p.Gly276Arg
ENST00000652509.1:c.59G>C
ENST00000216605.12:c.826G>C	ENSP00000216605.8:p.Gly276Arg
ENST00000545908.5:c.994G>C	ENSP00000438588.1:p.Gly332Arg
ENST00000553391.2:n.130G>C
ENST00000554057.5:n.259G>C
ENST00000555252.5:n.883G>C
NM_005956.3:c.826G>C	NP_005947.3:p.Gly276Arg
NM_001364837.1:c.826G>C	NP_001351766.1:p.Gly276Arg
NM_005956.4:c.826G>C MANE Select	NP_005947.3:p.Gly276Arg