Canonical Allele Identifier: CA2625231099

Gene: MTHFD1

Linked Data

• gnomAD v4: 14-64435442-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64435442C>A , CM000676.2:g.64435442C>A	GRCh38
NC_000014.8:g.64902160C>A , CM000676.1:g.64902160C>A	GRCh37
NC_000014.7:g.63971913C>A	NCBI36
NG_012450.1:g.52402C>A
NG_012450.2:g.52402C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000555858.2:n.1644-127C>A
ENST00000557539.2:c.1252-127C>A	ENSP00000476468.2:n.1252-127C>A
ENST00000697166.1:n.1644-127C>A
ENST00000697167.1:c.*179-127C>A	ENSP00000513155.1:n.*179-127C>A
ENST00000697168.1:c.1495-127C>A	ENSP00000513156.1:n.1495-127C>A
ENST00000697169.1:c.1495-127C>A	ENSP00000513157.1:n.1495-127C>A
ENST00000697170.1:n.1643+3581C>A
ENST00000697171.1:c.1495-127C>A	ENSP00000513158.1:n.1495-127C>A
ENST00000697173.1:c.1252-127C>A	ENSP00000513159.1:n.1252-127C>A
ENST00000697174.1:c.1246-127C>A	ENSP00000513160.1:n.1246-127C>A
ENST00000697175.1:c.*291-127C>A	ENSP00000513161.1:n.*291-127C>A
ENST00000697176.1:c.1252-127C>A	ENSP00000513162.1:n.1252-127C>A
ENST00000545908.6:c.1495-127C>A	ENSP00000438588.2:n.1495-127C>A
ENST00000554768.6:c.1252-127C>A	ENSP00000477501.2:n.1252-127C>A
ENST00000555709.7:c.*872-127C>A	ENSP00000450560.3:n.*872-127C>A
ENST00000557370.3:c.1495-127C>A	ENSP00000477199.2:n.1495-127C>A
ENST00000650853.1:n.1570-127C>A
ENST00000651537.1:c.1495-127C>A	ENSP00000498511.1:n.1495-127C>A
ENST00000652179.1:c.1252-127C>A	ENSP00000498649.1:n.1252-127C>A
ENST00000652337.1:c.1495-127C>A MANE Select	ENSP00000498336.1:n.1495-127C>A
ENST00000652509.1:c.728-127C>A
ENST00000216605.12:c.1495-127C>A	ENSP00000216605.8:n.1495-127C>A
ENST00000545908.5:c.1663-127C>A	ENSP00000438588.1:n.1663-127C>A
ENST00000554677.1:n.35-127C>A
ENST00000555252.5:n.1552-127C>A
NM_005956.3:c.1495-127C>A	NP_005947.3:n.1495-127C>A
NM_001364837.1:c.1495-127C>A	NP_001351766.1:n.1495-127C>A
NM_005956.4:c.1495-127C>A MANE Select	NP_005947.3:n.1495-127C>A