Canonical Allele Identifier: CA2643303013

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11802975-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11802976del , CM000663.2:g.11802976del	GRCh38
NC_000001.10:g.11863033del , CM000663.1:g.11863033del	GRCh37
NC_000001.9:g.11785620del	NCBI36
NG_008766.1:g.1827del
NG_013351.1:g.8128del , LRG_726:g.8128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.141del	ENSP00000365669.3:p.Lys48ArgfsTer2
ENST00000376585.6:c.264del	ENSP00000365770.1:p.Lys89ArgfsTer2
ENST00000376590.9:c.141del MANE Select	ENSP00000365775.3:p.Lys48ArgfsTer2
ENST00000376592.6:c.141del	ENSP00000365777.1:p.Lys48ArgfsTer2
ENST00000423400.7:c.261del	ENSP00000398908.3:p.Lys88ArgfsTer2
ENST00000431243.6:n.922del
ENST00000641407.1:c.141del	ENSP00000493098.1:p.Lys48ArgfsTer2
ENST00000641437.1:n.273del
ENST00000641446.1:c.141del	ENSP00000493262.1:p.Lys48ArgfsTer2
ENST00000641721.1:n.198del
ENST00000641747.1:c.141del	ENSP00000493116.1:p.Lys48ArgfsTer2
ENST00000641759.1:n.276del
ENST00000641805.1:n.424del
ENST00000641909.1:n.551del
ENST00000642002.1:n.370del
ENST00000376583.7:c.264del	ENSP00000365767.3:p.Lys89ArgfsTer2
ENST00000376585.5:c.264del	ENSP00000365770.1:p.Lys89ArgfsTer2
ENST00000376590.7:c.141del	ENSP00000365775.3:p.Lys48ArgfsTer2
ENST00000376592.5:c.141del	ENSP00000365777.1:p.Lys48ArgfsTer2
ENST00000418034.1:c.141del	ENSP00000405082.1:p.Lys48ArgfsTer2
NM_005957.4:c.141del , LRG_726t1:c.141del	NP_005948.3:p.Lys48ArgfsTer2
XM_005263458.2:c.264del	XP_005263515.1:p.Lys89ArgfsTer2
XM_005263460.3:c.141del	XP_005263517.1:p.Lys48ArgfsTer2
XM_005263461.3:c.141del	XP_005263518.1:p.Lys48ArgfsTer2
XM_005263462.3:c.141del	XP_005263519.1:p.Lys48ArgfsTer2
XM_005263463.2:c.-123del	XP_005263520.1:n.-123del
XM_011541495.1:c.261del	XP_011539797.1:p.Lys88ArgfsTer2
XM_011541496.1:c.264del	XP_011539798.1:p.Lys89ArgfsTer2
NM_001330358.1:c.264del	NP_001317287.1:p.Lys89ArgfsTer2
XM_005263460.5:c.141del	XP_005263517.1:p.Lys48ArgfsTer2
XM_005263462.4:c.141del	XP_005263519.1:p.Lys48ArgfsTer2
XM_005263463.4:c.-123del	XP_005263520.1:n.-123del
XM_011541495.3:c.261del	XP_011539797.1:p.Lys88ArgfsTer2
XM_011541496.3:c.264del	XP_011539798.1:p.Lys89ArgfsTer2
XM_017001328.2:c.264del	XP_016856817.1:p.Lys89ArgfsTer2
XM_024447198.1:c.-123del	XP_024302966.1:n.-123del
XR_002956640.1:n.1008del
NM_005957.5:c.141del MANE Select	NP_005948.3:p.Lys48ArgfsTer2
NM_001330358.2:c.264del	NP_001317287.1:p.Lys89ArgfsTer2