Canonical Allele Identifier: CA2580060871

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 2011807
• ClinVar RCV Id: RCV002851368

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11791201_11791211del , CM000663.2:g.11791201_11791211del	GRCh38
NC_000001.10:g.11851258_11851268del , CM000663.1:g.11851258_11851268del	GRCh37
NC_000001.9:g.11773845_11773855del	NCBI36
NG_013351.1:g.19894_19904del , LRG_726:g.19894_19904del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1872_1875+7del
ENST00000376590.9:c.1749_1752+7del
ENST00000376592.6:c.1749_1752+7del
ENST00000423400.7:c.1869_1872+7del
ENST00000641407.1:c.1749_1752+7del
ENST00000641446.1:c.*208_*211+7del
ENST00000641747.1:c.*1261_*1264+7del
ENST00000641759.1:n.2118_2121+7del
ENST00000641805.1:n.2266_2269+7del
ENST00000641820.1:c.1014_1017+7del
ENST00000376583.7:c.1872_1875+7del
ENST00000376585.5:c.1872_1875+7del
ENST00000376590.7:c.1749_1752+7del
ENST00000376592.5:c.1749_1752+7del
NM_005957.4:c.1749_1752+7del , LRG_726t1:c.1749_1752+7del
XM_005263458.2:c.1872_1875+7del
XM_005263460.3:c.1749_1752+7del
XM_005263461.3:c.1749_1752+7del
XM_005263462.3:c.1749_1752+7del
XM_005263463.2:c.1503_1506+7del
XM_011541495.1:c.1869_1872+7del
XM_011541496.1:c.1872_1875+7del
NM_001330358.1:c.1872_1875+7del
XM_005263460.5:c.1749_1752+7del
XM_005263462.4:c.1749_1752+7del
XM_005263463.4:c.1503_1506+7del
XM_011541495.3:c.1869_1872+7del
XM_011541496.3:c.1872_1875+7del
XM_017001328.2:c.1872_1875+7del
XM_024447198.1:c.1503_1506+7del
XR_002956640.1:n.2850_2853+7del
NM_005957.5:c.1749_1752+7del
NM_001330358.2:c.1872_1875+7del