Canonical Allele Identifier: CA2695197958

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 2676844
• ClinVar RCV Id: RCV003461968

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11791208_11791211del , CM000663.2:g.11791208_11791211del	GRCh38
NC_000001.10:g.11851265_11851268del , CM000663.1:g.11851265_11851268del	GRCh37
NC_000001.9:g.11773852_11773855del	NCBI36
NG_013351.1:g.19895_19898del , LRG_726:g.19895_19898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1873_1875+1del
ENST00000376590.9:c.1750_1752+1del
ENST00000376592.6:c.1750_1752+1del
ENST00000423400.7:c.1870_1872+1del
ENST00000641407.1:c.1750_1752+1del
ENST00000641446.1:c.*209_*211+1del
ENST00000641747.1:c.*1262_*1264+1del
ENST00000641759.1:n.2119_2121+1del
ENST00000641805.1:n.2267_2269+1del
ENST00000641820.1:c.1015_1017+1del
ENST00000376583.7:c.1873_1875+1del
ENST00000376585.5:c.1873_1875+1del
ENST00000376590.7:c.1750_1752+1del
ENST00000376592.5:c.1750_1752+1del
NM_005957.4:c.1750_1752+1del , LRG_726t1:c.1750_1752+1del
XM_005263458.2:c.1873_1875+1del
XM_005263460.3:c.1750_1752+1del
XM_005263461.3:c.1750_1752+1del
XM_005263462.3:c.1750_1752+1del
XM_005263463.2:c.1504_1506+1del
XM_011541495.1:c.1870_1872+1del
XM_011541496.1:c.1873_1875+1del
NM_001330358.1:c.1873_1875+1del
XM_005263460.5:c.1750_1752+1del
XM_005263462.4:c.1750_1752+1del
XM_005263463.4:c.1504_1506+1del
XM_011541495.3:c.1870_1872+1del
XM_011541496.3:c.1873_1875+1del
XM_017001328.2:c.1873_1875+1del
XM_024447198.1:c.1504_1506+1del
XR_002956640.1:n.2851_2853+1del
NM_005957.5:c.1750_1752+1del
NM_001330358.2:c.1873_1875+1del