Canonical Allele Identifier: CA389975930

Gene: MTHFD1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64417926C>G , CM000676.2:g.64417926C>G	GRCh38
NC_000014.8:g.64884644C>G , CM000676.1:g.64884644C>G	GRCh37
NC_000014.7:g.63954397C>G	NCBI36
NG_012450.1:g.34886C>G
NG_012450.2:g.34886C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555858.2:n.666C>G
ENST00000557539.2:c.274C>G	ENSP00000476468.2:p.Arg92Gly
ENST00000697166.1:n.666C>G
ENST00000697167.1:c.517C>G	ENSP00000513155.1:p.Arg173Gly
ENST00000697168.1:c.517C>G	ENSP00000513156.1:p.Arg173Gly
ENST00000697169.1:c.517C>G	ENSP00000513157.1:p.Arg173Gly
ENST00000697170.1:n.666C>G
ENST00000697171.1:c.517C>G	ENSP00000513158.1:p.Arg173Gly
ENST00000697173.1:c.274C>G	ENSP00000513159.1:p.Arg92Gly
ENST00000697174.1:c.478+2187C>G	ENSP00000513160.1:n.478+2187C>G
ENST00000697175.1:c.274C>G	ENSP00000513161.1:p.Arg92Gly
ENST00000697176.1:c.274C>G	ENSP00000513162.1:p.Arg92Gly
ENST00000545908.6:c.517C>G	ENSP00000438588.2:p.Arg173Gly
ENST00000554768.6:c.274C>G	ENSP00000477501.2:p.Arg92Gly
ENST00000555709.7:c.479-1888C>G	ENSP00000450560.3:n.479-1888C>G
ENST00000557370.3:c.517C>G	ENSP00000477199.2:p.Arg173Gly
ENST00000650853.1:n.592C>G
ENST00000651537.1:c.517C>G	ENSP00000498511.1:p.Arg173Gly
ENST00000652179.1:c.274C>G	ENSP00000498649.1:p.Arg92Gly
ENST00000652337.1:c.517C>G MANE Select	ENSP00000498336.1:p.Arg173Gly
ENST00000652503.1:n.141C>G
ENST00000216605.12:c.517C>G	ENSP00000216605.8:p.Arg173Gly
ENST00000545908.5:c.685C>G	ENSP00000438588.1:p.Arg229Gly
ENST00000555252.5:n.574C>G
ENST00000555709.6:c.685C>G	ENSP00000450560.2:p.Arg229Gly
NM_005956.3:c.517C>G	NP_005947.3:p.Arg173Gly
NM_001364837.1:c.517C>G	NP_001351766.1:p.Arg173Gly
NM_005956.4:c.517C>G MANE Select	NP_005947.3:p.Arg173Gly