Canonical Allele Identifier: CA2697552204

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 2752719
• ClinVar RCV Id: RCV003524450

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11802982del , CM000663.2:g.11802982del	GRCh38
NC_000001.10:g.11863039del , CM000663.1:g.11863039del	GRCh37
NC_000001.9:g.11785626del	NCBI36
NG_008766.1:g.1833del
NG_013351.1:g.8123del , LRG_726:g.8123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.136del	ENSP00000365669.3:p.Arg46GlyfsTer4
ENST00000376585.6:c.259del	ENSP00000365770.1:p.Arg87GlyfsTer4
ENST00000376590.9:c.136del MANE Select	ENSP00000365775.3:p.Arg46GlyfsTer4
ENST00000376592.6:c.136del	ENSP00000365777.1:p.Arg46GlyfsTer4
ENST00000423400.7:c.256del	ENSP00000398908.3:p.Arg86GlyfsTer4
ENST00000431243.6:n.917del
ENST00000641407.1:c.136del	ENSP00000493098.1:p.Arg46GlyfsTer4
ENST00000641437.1:n.268del
ENST00000641446.1:c.136del	ENSP00000493262.1:p.Arg46GlyfsTer4
ENST00000641721.1:n.193del
ENST00000641747.1:c.136del	ENSP00000493116.1:p.Arg46GlyfsTer4
ENST00000641759.1:n.271del
ENST00000641805.1:n.419del
ENST00000641909.1:n.546del
ENST00000642002.1:n.365del
ENST00000376583.7:c.259del	ENSP00000365767.3:p.Arg87GlyfsTer4
ENST00000376585.5:c.259del	ENSP00000365770.1:p.Arg87GlyfsTer4
ENST00000376590.7:c.136del	ENSP00000365775.3:p.Arg46GlyfsTer4
ENST00000376592.5:c.136del	ENSP00000365777.1:p.Arg46GlyfsTer4
ENST00000418034.1:c.136del	ENSP00000405082.1:p.Arg46GlyfsTer4
NM_005957.4:c.136del , LRG_726t1:c.136del	NP_005948.3:p.Arg46GlyfsTer4
XM_005263458.2:c.259del	XP_005263515.1:p.Arg87GlyfsTer4
XM_005263460.3:c.136del	XP_005263517.1:p.Arg46GlyfsTer4
XM_005263461.3:c.136del	XP_005263518.1:p.Arg46GlyfsTer4
XM_005263462.3:c.136del	XP_005263519.1:p.Arg46GlyfsTer4
XM_005263463.2:c.-128del	XP_005263520.1:n.-128del
XM_011541495.1:c.256del	XP_011539797.1:p.Arg86GlyfsTer4
XM_011541496.1:c.259del	XP_011539798.1:p.Arg87GlyfsTer4
NM_001330358.1:c.259del	NP_001317287.1:p.Arg87GlyfsTer4
XM_005263460.5:c.136del	XP_005263517.1:p.Arg46GlyfsTer4
XM_005263462.4:c.136del	XP_005263519.1:p.Arg46GlyfsTer4
XM_005263463.4:c.-128del	XP_005263520.1:n.-128del
XM_011541495.3:c.256del	XP_011539797.1:p.Arg86GlyfsTer4
XM_011541496.3:c.259del	XP_011539798.1:p.Arg87GlyfsTer4
XM_017001328.2:c.259del	XP_016856817.1:p.Arg87GlyfsTer4
XM_024447198.1:c.-128del	XP_024302966.1:n.-128del
XR_002956640.1:n.1003del
NM_005957.5:c.136del MANE Select	NP_005948.3:p.Arg46GlyfsTer4
NM_001330358.2:c.259del	NP_001317287.1:p.Arg87GlyfsTer4