Canonical Allele Identifier: CA2695242817
Gene: MTHFR HGNC NCBI

Linked Data

dbSNP Id: rs201401275

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11801897_11801903del , CM000663.2:g.11801897_11801903del GRCh38
NC_000001.10:g.11861954_11861960del , CM000663.1:g.11861954_11861960del GRCh37
NC_000001.9:g.11784541_11784547del NCBI36
NG_008766.1:g.748_754del
NG_013351.1:g.9202_9208del , LRG_726:g.9202_9208del

Transcript Alleles

HGVS Amino-acid change
ENST00000376486.3:c.237-503_237-497del ENSP00000365669.3:n.237-503_237-497del
ENST00000376585.6:c.360-503_360-497del ENSP00000365770.1:n.360-503_360-497del
ENST00000376590.9:c.237-503_237-497del MANE Select ENSP00000365775.3:n.237-503_237-497del
ENST00000376592.6:c.237-503_237-497del ENSP00000365777.1:n.237-503_237-497del
ENST00000423400.7:c.357-503_357-497del ENSP00000398908.3:n.357-503_357-497del
ENST00000431243.6:n.1018-486_1018-480del
ENST00000641407.1:c.237-503_237-497del ENSP00000493098.1:n.237-503_237-497del
ENST00000641437.1:n.369-503_369-497del
ENST00000641446.1:c.237-503_237-497del ENSP00000493262.1:n.237-503_237-497del
ENST00000641721.1:n.294-503_294-497del
ENST00000641747.1:c.236+979_236+985del ENSP00000493116.1:n.236+979_236+985del
ENST00000641759.1:n.372-503_372-497del
ENST00000641805.1:n.520-503_520-497del
ENST00000641909.1:n.647-503_647-497del
ENST00000642002.1:n.466-486_466-480del
ENST00000376583.7:c.360-503_360-497del ENSP00000365767.3:n.360-503_360-497del
ENST00000376585.5:c.360-503_360-497del ENSP00000365770.1:n.360-503_360-497del
ENST00000376590.7:c.237-503_237-497del ENSP00000365775.3:n.237-503_237-497del
ENST00000376592.5:c.237-503_237-497del ENSP00000365777.1:n.237-503_237-497del
ENST00000418034.1:c.237-503_237-497del ENSP00000405082.1:n.237-503_237-497del
NM_005957.4:c.237-503_237-497del , LRG_726t1:c.237-503_237-497del NP_005948.3:n.237-503_237-497del
XM_005263458.2:c.360-503_360-497del XP_005263515.1:n.360-503_360-497del
XM_005263460.3:c.237-503_237-497del XP_005263517.1:n.237-503_237-497del
XM_005263461.3:c.237-503_237-497del XP_005263518.1:n.237-503_237-497del
XM_005263462.3:c.237-503_237-497del XP_005263519.1:n.237-503_237-497del
XM_005263463.2:c.-27-486_-27-480del XP_005263520.1:n.-27-486_-27-480del
XM_011541495.1:c.357-503_357-497del XP_011539797.1:n.357-503_357-497del
XM_011541496.1:c.360-503_360-497del XP_011539798.1:n.360-503_360-497del
NM_001330358.1:c.360-503_360-497del NP_001317287.1:n.360-503_360-497del
XM_005263460.5:c.237-503_237-497del XP_005263517.1:n.237-503_237-497del
XM_005263462.4:c.237-503_237-497del XP_005263519.1:n.237-503_237-497del
XM_005263463.4:c.-27-486_-27-480del XP_005263520.1:n.-27-486_-27-480del
XM_011541495.3:c.357-503_357-497del XP_011539797.1:n.357-503_357-497del
XM_011541496.3:c.360-503_360-497del XP_011539798.1:n.360-503_360-497del
XM_017001328.2:c.360-503_360-497del XP_016856817.1:n.360-503_360-497del
XM_024447198.1:c.-27-486_-27-480del XP_024302966.1:n.-27-486_-27-480del
XR_002956640.1:n.1104-503_1104-497del
NM_005957.5:c.237-503_237-497del MANE Select NP_005948.3:n.237-503_237-497del
NM_001330358.2:c.360-503_360-497del NP_001317287.1:n.360-503_360-497del