Canonical Allele Identifier: CA7225731
Gene: MTHFD1 HGNC NCBI

Linked Data

dbSNP Id: rs747478903
ExAC: 14:64854951 A / C
gnomAD v2: 14-64854951-A-C
gnomAD v4: 14-64388233-A-C
MyVariant Identifiers: chr14:g.64854951A>C (hg19) chr14:g.64388233A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64388233A>C , CM000676.2:g.64388233A>C GRCh38
NC_000014.8:g.64854951A>C , CM000676.1:g.64854951A>C GRCh37
NC_000014.7:g.63924704A>C NCBI36
NG_012450.1:g.5193A>C
NG_012450.2:g.5193A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000545908.6:c.-195A>C ENSP00000438588.2:n.-195A>C
ENST00000545908.5:c.-27A>C ENSP00000438588.1:n.-27A>C
NM_005956.3:c.-195A>C NP_005947.3:n.-195A>C
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