Canonical Allele Identifier: CA7225850
Gene: MTHFD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 446306
dbSNP Id: rs370444838

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64411109C>T , CM000676.2:g.64411109C>T GRCh38
NC_000014.8:g.64877827C>T , CM000676.1:g.64877827C>T GRCh37
NC_000014.7:g.63947580C>T NCBI36
NG_012450.1:g.28069C>T
NG_012450.2:g.28069C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000555858.2:n.295C>T
ENST00000557539.2:c.-98C>T ENSP00000476468.2:n.-98C>T
ENST00000697166.1:n.295C>T
ENST00000697167.1:c.146C>T ENSP00000513155.1:p.Ser49Phe
ENST00000697168.1:c.146C>T ENSP00000513156.1:p.Ser49Phe
ENST00000697169.1:c.146C>T ENSP00000513157.1:p.Ser49Phe
ENST00000697170.1:n.295C>T
ENST00000697171.1:c.146C>T ENSP00000513158.1:p.Ser49Phe
ENST00000697173.1:c.-98C>T ENSP00000513159.1:n.-98C>T
ENST00000697174.1:c.146C>T ENSP00000513160.1:p.Ser49Phe
ENST00000697175.1:c.-234C>T ENSP00000513161.1:n.-234C>T
ENST00000697176.1:c.-98C>T ENSP00000513162.1:n.-98C>T
ENST00000545908.6:c.146C>T ENSP00000438588.2:p.Ser49Phe
ENST00000554768.6:c.-98C>T ENSP00000477501.2:n.-98C>T
ENST00000555709.7:c.146C>T ENSP00000450560.3:p.Ser49Phe
ENST00000557370.3:c.146C>T ENSP00000477199.2:p.Ser49Phe
ENST00000650853.1:n.221C>T
ENST00000651537.1:c.146C>T ENSP00000498511.1:p.Ser49Phe
ENST00000652179.1:c.-98C>T ENSP00000498649.1:n.-98C>T
ENST00000652337.1:c.146C>T MANE Select ENSP00000498336.1:p.Ser49Phe
ENST00000216605.12:c.146C>T ENSP00000216605.8:p.Ser49Phe
ENST00000545908.5:c.314C>T ENSP00000438588.1:p.Ser105Phe
ENST00000554739.5:c.-98C>T ENSP00000477359.1:n.-98C>T
ENST00000554768.5:c.-98C>T ENSP00000477501.1:n.-98C>T
ENST00000555252.5:n.244-1363C>T
ENST00000555709.6:c.314C>T ENSP00000450560.2:p.Ser105Phe
ENST00000557539.1:c.-98C>T ENSP00000476468.1:n.-98C>T
NM_005956.3:c.146C>T NP_005947.3:p.Ser49Phe
NM_001364837.1:c.146C>T NP_001351766.1:p.Ser49Phe
NM_005956.4:c.146C>T MANE Select NP_005947.3:p.Ser49Phe