Canonical Allele Identifier: CA2643303077

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11802998-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11802999del , CM000663.2:g.11802999del	GRCh38
NC_000001.10:g.11863056del , CM000663.1:g.11863056del	GRCh37
NC_000001.9:g.11785643del	NCBI36
NG_008766.1:g.1850del
NG_013351.1:g.8105del , LRG_726:g.8105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.118del	ENSP00000365669.3:p.Glu40SerfsTer10
ENST00000376585.6:c.241del	ENSP00000365770.1:p.Glu81SerfsTer10
ENST00000376590.9:c.118del MANE Select	ENSP00000365775.3:p.Glu40SerfsTer10
ENST00000376592.6:c.118del	ENSP00000365777.1:p.Glu40SerfsTer10
ENST00000423400.7:c.238del	ENSP00000398908.3:p.Glu80SerfsTer10
ENST00000431243.6:n.899del
ENST00000641407.1:c.118del	ENSP00000493098.1:p.Glu40SerfsTer10
ENST00000641437.1:n.250del
ENST00000641446.1:c.118del	ENSP00000493262.1:p.Glu40SerfsTer10
ENST00000641721.1:n.175del
ENST00000641747.1:c.118del	ENSP00000493116.1:p.Glu40SerfsTer10
ENST00000641759.1:n.253del
ENST00000641805.1:n.401del
ENST00000641909.1:n.528del
ENST00000642002.1:n.347del
ENST00000376583.7:c.241del	ENSP00000365767.3:p.Glu81SerfsTer10
ENST00000376585.5:c.241del	ENSP00000365770.1:p.Glu81SerfsTer10
ENST00000376590.7:c.118del	ENSP00000365775.3:p.Glu40SerfsTer10
ENST00000376592.5:c.118del	ENSP00000365777.1:p.Glu40SerfsTer10
ENST00000418034.1:c.118del	ENSP00000405082.1:p.Glu40SerfsTer10
NM_005957.4:c.118del , LRG_726t1:c.118del	NP_005948.3:p.Glu40SerfsTer10
XM_005263458.2:c.241del	XP_005263515.1:p.Glu81SerfsTer10
XM_005263460.3:c.118del	XP_005263517.1:p.Glu40SerfsTer10
XM_005263461.3:c.118del	XP_005263518.1:p.Glu40SerfsTer10
XM_005263462.3:c.118del	XP_005263519.1:p.Glu40SerfsTer10
XM_005263463.2:c.-146del	XP_005263520.1:n.-146del
XM_011541495.1:c.238del	XP_011539797.1:p.Glu80SerfsTer10
XM_011541496.1:c.241del	XP_011539798.1:p.Glu81SerfsTer10
NM_001330358.1:c.241del	NP_001317287.1:p.Glu81SerfsTer10
XM_005263460.5:c.118del	XP_005263517.1:p.Glu40SerfsTer10
XM_005263462.4:c.118del	XP_005263519.1:p.Glu40SerfsTer10
XM_005263463.4:c.-146del	XP_005263520.1:n.-146del
XM_011541495.3:c.238del	XP_011539797.1:p.Glu80SerfsTer10
XM_011541496.3:c.241del	XP_011539798.1:p.Glu81SerfsTer10
XM_017001328.2:c.241del	XP_016856817.1:p.Glu81SerfsTer10
XM_024447198.1:c.-146del	XP_024302966.1:n.-146del
XR_002956640.1:n.985del
NM_005957.5:c.118del MANE Select	NP_005948.3:p.Glu40SerfsTer10
NM_001330358.2:c.241del	NP_001317287.1:p.Glu81SerfsTer10