Canonical Allele Identifier: CA913187040

Gene: MTHFR

Linked Data

• dbSNP Id: rs1644225240

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795222_11795223insTTT , CM000663.2:g.11795222_11795223insTTT	GRCh38
NC_000001.10:g.11855279_11855280insTTT , CM000663.1:g.11855279_11855280insTTT	GRCh37
NC_000001.9:g.11777866_11777867insTTT	NCBI36
NG_013351.1:g.15881_15882insAAA , LRG_726:g.15881_15882insAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1029_1030insAAA	ENSP00000365770.1:p.Ala343_Val344insLys
ENST00000376590.9:c.906_907insAAA MANE Select	ENSP00000365775.3:p.Ala302_Val303insLys
ENST00000376592.6:c.906_907insAAA	ENSP00000365777.1:p.Ala302_Val303insLys
ENST00000423400.7:c.1026_1027insAAA	ENSP00000398908.3:p.Ala342_Val343insLys
ENST00000641407.1:c.906_907insAAA	ENSP00000493098.1:p.Ala302_Val303insLys
ENST00000641446.1:c.906_907insAAA	ENSP00000493262.1:p.Ala302_Val303insLys
ENST00000641721.1:n.769_770insAAA
ENST00000641747.1:c.*418_*419insAAA	ENSP00000493116.1:n.*418_*419insAAA
ENST00000641759.1:n.1041_1042insAAA
ENST00000641805.1:n.1189_1190insAAA
ENST00000641820.1:c.171_172insAAA	ENSP00000492937.1:p.Ala57_Val58insLys
ENST00000376583.7:c.1029_1030insAAA	ENSP00000365767.3:p.Ala343_Val344insLys
ENST00000376585.5:c.1029_1030insAAA	ENSP00000365770.1:p.Ala343_Val344insLys
ENST00000376590.7:c.906_907insAAA	ENSP00000365775.3:p.Ala302_Val303insLys
ENST00000376592.5:c.906_907insAAA	ENSP00000365777.1:p.Ala302_Val303insLys
NM_005957.4:c.906_907insAAA , LRG_726t1:c.906_907insAAA	NP_005948.3:p.Ala302_Val303insLys
XM_005263458.2:c.1029_1030insAAA	XP_005263515.1:p.Ala343_Val344insLys
XM_005263460.3:c.906_907insAAA	XP_005263517.1:p.Ala302_Val303insLys
XM_005263461.3:c.906_907insAAA	XP_005263518.1:p.Ala302_Val303insLys
XM_005263462.3:c.906_907insAAA	XP_005263519.1:p.Ala302_Val303insLys
XM_005263463.2:c.660_661insAAA	XP_005263520.1:p.Ala220_Val221insLys
XM_011541495.1:c.1026_1027insAAA	XP_011539797.1:p.Ala342_Val343insLys
XM_011541496.1:c.1029_1030insAAA	XP_011539798.1:p.Ala343_Val344insLys
NM_001330358.1:c.1029_1030insAAA	NP_001317287.1:p.Ala343_Val344insLys
XM_005263460.5:c.906_907insAAA	XP_005263517.1:p.Ala302_Val303insLys
XM_005263462.4:c.906_907insAAA	XP_005263519.1:p.Ala302_Val303insLys
XM_005263463.4:c.660_661insAAA	XP_005263520.1:p.Ala220_Val221insLys
XM_011541495.3:c.1026_1027insAAA	XP_011539797.1:p.Ala342_Val343insLys
XM_011541496.3:c.1029_1030insAAA	XP_011539798.1:p.Ala343_Val344insLys
XM_017001328.2:c.1029_1030insAAA	XP_016856817.1:p.Ala343_Val344insLys
XM_024447198.1:c.660_661insAAA	XP_024302966.1:p.Ala220_Val221insLys
XR_002956640.1:n.1773_1774insAAA
NM_005957.5:c.906_907insAAA MANE Select	NP_005948.3:p.Ala302_Val303insLys
NM_001330358.2:c.1029_1030insAAA	NP_001317287.1:p.Ala343_Val344insLys