Canonical Allele Identifier: CA2697552199

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 2738817
• ClinVar RCV Id: RCV003523459

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795224del , CM000663.2:g.11795224del	GRCh38
NC_000001.10:g.11855281del , CM000663.1:g.11855281del	GRCh37
NC_000001.9:g.11777868del	NCBI36
NG_013351.1:g.15881del , LRG_726:g.15881del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1029del	ENSP00000365770.1:p.Val344Ter
ENST00000376590.9:c.906del MANE Select	ENSP00000365775.3:p.Val303Ter
ENST00000376592.6:c.906del	ENSP00000365777.1:p.Val303Ter
ENST00000423400.7:c.1026del	ENSP00000398908.3:p.Val343Ter
ENST00000641407.1:c.906del	ENSP00000493098.1:p.Val303Ter
ENST00000641446.1:c.906del	ENSP00000493262.1:p.Val303Ter
ENST00000641721.1:n.769del
ENST00000641747.1:c.*418del	ENSP00000493116.1:n.*418del
ENST00000641759.1:n.1041del
ENST00000641805.1:n.1189del
ENST00000641820.1:c.171del	ENSP00000492937.1:p.Val58Ter
ENST00000376583.7:c.1029del	ENSP00000365767.3:p.Val344Ter
ENST00000376585.5:c.1029del	ENSP00000365770.1:p.Val344Ter
ENST00000376590.7:c.906del	ENSP00000365775.3:p.Val303Ter
ENST00000376592.5:c.906del	ENSP00000365777.1:p.Val303Ter
NM_005957.4:c.906del , LRG_726t1:c.906del	NP_005948.3:p.Val303Ter
XM_005263458.2:c.1029del	XP_005263515.1:p.Val344Ter
XM_005263460.3:c.906del	XP_005263517.1:p.Val303Ter
XM_005263461.3:c.906del	XP_005263518.1:p.Val303Ter
XM_005263462.3:c.906del	XP_005263519.1:p.Val303Ter
XM_005263463.2:c.660del	XP_005263520.1:p.Val221Ter
XM_011541495.1:c.1026del	XP_011539797.1:p.Val343Ter
XM_011541496.1:c.1029del	XP_011539798.1:p.Val344Ter
NM_001330358.1:c.1029del	NP_001317287.1:p.Val344Ter
XM_005263460.5:c.906del	XP_005263517.1:p.Val303Ter
XM_005263462.4:c.906del	XP_005263519.1:p.Val303Ter
XM_005263463.4:c.660del	XP_005263520.1:p.Val221Ter
XM_011541495.3:c.1026del	XP_011539797.1:p.Val343Ter
XM_011541496.3:c.1029del	XP_011539798.1:p.Val344Ter
XM_017001328.2:c.1029del	XP_016856817.1:p.Val344Ter
XM_024447198.1:c.660del	XP_024302966.1:p.Val221Ter
XR_002956640.1:n.1773del
NM_005957.5:c.906del MANE Select	NP_005948.3:p.Val303Ter
NM_001330358.2:c.1029del	NP_001317287.1:p.Val344Ter