Canonical Allele Identifier: CA2573130502

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 1510009
• ClinVar RCV Id: RCV002042950
• dbSNP Id: rs2100528352
• gnomAD v4: 1-11794856-GGGGACGCCTGGGTGAGGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794860_11794878del , CM000663.2:g.11794860_11794878del	GRCh38
NC_000001.10:g.11854917_11854935del , CM000663.1:g.11854917_11854935del	GRCh37
NC_000001.9:g.11777504_11777522del	NCBI36
NG_013351.1:g.16229_16247del , LRG_726:g.16229_16247del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1155-12_1161del
ENST00000376590.9:c.1032-12_1038del
ENST00000376592.6:c.1032-12_1038del
ENST00000423400.7:c.1152-12_1158del
ENST00000641407.1:c.1032-12_1038del
ENST00000641446.1:c.1032-12_1038del
ENST00000641747.1:c.*544-12_*550del
ENST00000641759.1:n.1389_1407del
ENST00000641805.1:n.1537_1555del
ENST00000641820.1:c.297-12_303del
ENST00000376583.7:c.1155-12_1161del
ENST00000376585.5:c.1155-12_1161del
ENST00000376590.7:c.1032-12_1038del
ENST00000376592.5:c.1032-12_1038del
NM_005957.4:c.1032-12_1038del , LRG_726t1:c.1032-12_1038del
XM_005263458.2:c.1155-12_1161del
XM_005263460.3:c.1032-12_1038del
XM_005263461.3:c.1032-12_1038del
XM_005263462.3:c.1032-12_1038del
XM_005263463.2:c.786-12_792del
XM_011541495.1:c.1152-12_1158del
XM_011541496.1:c.1155-12_1161del
NM_001330358.1:c.1155-12_1161del
XM_005263460.5:c.1032-12_1038del
XM_005263462.4:c.1032-12_1038del
XM_005263463.4:c.786-12_792del
XM_011541495.3:c.1152-12_1158del
XM_011541496.3:c.1155-12_1161del
XM_017001328.2:c.1155-12_1161del
XM_024447198.1:c.786-12_792del
XR_002956640.1:n.2121_2139del
NM_005957.5:c.1032-12_1038del
NM_001330358.2:c.1155-12_1161del