Canonical Allele Identifier: CA614707747
Gene: MTHFD1 HGNC NCBI

Linked Data

dbSNP Id: rs1262109123
gnomAD v2: 14-64854948-T-G
gnomAD v4: 14-64388230-T-G
MyVariant Identifiers: chr14:g.64854948T>G (hg19) chr14:g.64388230T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64388230T>G , CM000676.2:g.64388230T>G GRCh38
NC_000014.8:g.64854948T>G , CM000676.1:g.64854948T>G GRCh37
NC_000014.7:g.63924701T>G NCBI36
NG_012450.1:g.5190T>G
NG_012450.2:g.5190T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000545908.6:c.-198T>G ENSP00000438588.2:n.-198T>G
ENST00000545908.5:c.-30T>G ENSP00000438588.1:n.-30T>G
NM_005956.3:c.-198T>G NP_005947.3:n.-198T>G
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