Canonical Allele Identifier: CA2643296969

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11796353-CAGGTCAGCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11796354_11796363del , CM000663.2:g.11796354_11796363del	GRCh38
NC_000001.10:g.11856411_11856420del , CM000663.1:g.11856411_11856420del	GRCh37
NC_000001.9:g.11778998_11779007del	NCBI36
NG_013351.1:g.14741_14750del , LRG_726:g.14741_14750del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.623_632del	ENSP00000365669.3:p.Glu208GlyfsTer4
ENST00000376585.6:c.746_755del	ENSP00000365770.1:p.Glu249GlyfsTer4
ENST00000376590.9:c.623_632del MANE Select	ENSP00000365775.3:p.Glu208GlyfsTer4
ENST00000376592.6:c.623_632del	ENSP00000365777.1:p.Glu208GlyfsTer4
ENST00000423400.7:c.743_752del	ENSP00000398908.3:p.Glu248GlyfsTer4
ENST00000641407.1:c.623_632del	ENSP00000493098.1:p.Glu208GlyfsTer4
ENST00000641446.1:c.623_632del	ENSP00000493262.1:p.Glu208GlyfsTer4
ENST00000641721.1:n.644-1015_644-1006del
ENST00000641747.1:c.*135_*144del	ENSP00000493116.1:n.*135_*144del
ENST00000641759.1:n.758_767del
ENST00000641805.1:n.906_915del
ENST00000641820.1:c.-113_-104del	ENSP00000492937.1:n.-113_-104del
ENST00000376583.7:c.746_755del	ENSP00000365767.3:p.Glu249GlyfsTer4
ENST00000376585.5:c.746_755del	ENSP00000365770.1:p.Glu249GlyfsTer4
ENST00000376590.7:c.623_632del	ENSP00000365775.3:p.Glu208GlyfsTer4
ENST00000376592.5:c.623_632del	ENSP00000365777.1:p.Glu208GlyfsTer4
NM_005957.4:c.623_632del , LRG_726t1:c.623_632del	NP_005948.3:p.Glu208GlyfsTer4
XM_005263458.2:c.746_755del	XP_005263515.1:p.Glu249GlyfsTer4
XM_005263460.3:c.623_632del	XP_005263517.1:p.Glu208GlyfsTer4
XM_005263461.3:c.623_632del	XP_005263518.1:p.Glu208GlyfsTer4
XM_005263462.3:c.623_632del	XP_005263519.1:p.Glu208GlyfsTer4
XM_005263463.2:c.377_386del	XP_005263520.1:p.Glu126GlyfsTer4
XM_011541495.1:c.743_752del	XP_011539797.1:p.Glu248GlyfsTer4
XM_011541496.1:c.746_755del	XP_011539798.1:p.Glu249GlyfsTer4
NM_001330358.1:c.746_755del	NP_001317287.1:p.Glu249GlyfsTer4
XM_005263460.5:c.623_632del	XP_005263517.1:p.Glu208GlyfsTer4
XM_005263462.4:c.623_632del	XP_005263519.1:p.Glu208GlyfsTer4
XM_005263463.4:c.377_386del	XP_005263520.1:p.Glu126GlyfsTer4
XM_011541495.3:c.743_752del	XP_011539797.1:p.Glu248GlyfsTer4
XM_011541496.3:c.746_755del	XP_011539798.1:p.Glu249GlyfsTer4
XM_017001328.2:c.746_755del	XP_016856817.1:p.Glu249GlyfsTer4
XM_024447198.1:c.377_386del	XP_024302966.1:p.Glu126GlyfsTer4
XR_002956640.1:n.1490_1499del
NM_005957.5:c.623_632del MANE Select	NP_005948.3:p.Glu208GlyfsTer4
NM_001330358.2:c.746_755del	NP_001317287.1:p.Glu249GlyfsTer4