Canonical Allele Identifier: CA7225729
Gene: MTHFD1 HGNC NCBI

Linked Data

dbSNP Id: rs759923460
ExAC: 14:64854942 GGTTA / G
gnomAD v2: 14-64854942-GGTTA-G
gnomAD v3: 14-64388224-GGTTA-G
gnomAD v4: 14-64388224-GGTTA-G
MyVariant Identifiers: chr14:g.64854943_64854946del (hg19) chr14:g.64388225_64388228del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64388229_64388232del , CM000676.2:g.64388229_64388232del GRCh38
NC_000014.8:g.64854947_64854950del , CM000676.1:g.64854947_64854950del GRCh37
NC_000014.7:g.63924700_63924703del NCBI36
NG_012450.1:g.5189_5192del
NG_012450.2:g.5189_5192del

Transcript Alleles

HGVS Amino-acid change
ENST00000545908.6:c.-199_-196del ENSP00000438588.2:n.-199_-196del
ENST00000545908.5:c.-31_-28del ENSP00000438588.1:n.-31_-28del
NM_005956.3:c.-199_-196del NP_005947.3:n.-199_-196del
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