Canonical Allele Identifier: CA2695393934

Gene: MTHFR

Linked Data

• dbSNP Id: rs2100530796

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795215del , CM000663.2:g.11795215del	GRCh38
NC_000001.10:g.11855272del , CM000663.1:g.11855272del	GRCh37
NC_000001.9:g.11777859del	NCBI36
NG_013351.1:g.15889del , LRG_726:g.15889del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1037del	ENSP00000365770.1:p.Leu346ArgfsTer29
ENST00000376590.9:c.914del MANE Select	ENSP00000365775.3:p.Leu305ArgfsTer29
ENST00000376592.6:c.914del	ENSP00000365777.1:p.Leu305ArgfsTer29
ENST00000423400.7:c.1034del	ENSP00000398908.3:p.Leu345ArgfsTer29
ENST00000641407.1:c.914del	ENSP00000493098.1:p.Leu305ArgfsTer29
ENST00000641446.1:c.914del	ENSP00000493262.1:p.Leu305ArgfsTer29
ENST00000641721.1:n.777del
ENST00000641747.1:c.*426del	ENSP00000493116.1:n.*426del
ENST00000641759.1:n.1049del
ENST00000641805.1:n.1197del
ENST00000641820.1:c.179del	ENSP00000492937.1:p.Leu60ArgfsTer29
ENST00000376583.7:c.1037del	ENSP00000365767.3:p.Leu346ArgfsTer29
ENST00000376585.5:c.1037del	ENSP00000365770.1:p.Leu346ArgfsTer29
ENST00000376590.7:c.914del	ENSP00000365775.3:p.Leu305ArgfsTer29
ENST00000376592.5:c.914del	ENSP00000365777.1:p.Leu305ArgfsTer29
NM_005957.4:c.914del , LRG_726t1:c.914del	NP_005948.3:p.Leu305ArgfsTer29
XM_005263458.2:c.1037del	XP_005263515.1:p.Leu346ArgfsTer29
XM_005263460.3:c.914del	XP_005263517.1:p.Leu305ArgfsTer29
XM_005263461.3:c.914del	XP_005263518.1:p.Leu305ArgfsTer29
XM_005263462.3:c.914del	XP_005263519.1:p.Leu305ArgfsTer29
XM_005263463.2:c.668del	XP_005263520.1:p.Leu223ArgfsTer29
XM_011541495.1:c.1034del	XP_011539797.1:p.Leu345ArgfsTer29
XM_011541496.1:c.1037del	XP_011539798.1:p.Leu346ArgfsTer29
NM_001330358.1:c.1037del	NP_001317287.1:p.Leu346ArgfsTer29
XM_005263460.5:c.914del	XP_005263517.1:p.Leu305ArgfsTer29
XM_005263462.4:c.914del	XP_005263519.1:p.Leu305ArgfsTer29
XM_005263463.4:c.668del	XP_005263520.1:p.Leu223ArgfsTer29
XM_011541495.3:c.1034del	XP_011539797.1:p.Leu345ArgfsTer29
XM_011541496.3:c.1037del	XP_011539798.1:p.Leu346ArgfsTer29
XM_017001328.2:c.1037del	XP_016856817.1:p.Leu346ArgfsTer29
XM_024447198.1:c.668del	XP_024302966.1:p.Leu223ArgfsTer29
XR_002956640.1:n.1781del
NM_005957.5:c.914del MANE Select	NP_005948.3:p.Leu305ArgfsTer29
NM_001330358.2:c.1037del	NP_001317287.1:p.Leu346ArgfsTer29