Canonical Allele Identifier: CA2573130718

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 1690982
• ClinVar RCV Id: RCV002252574
• dbSNP Id: rs2100540023

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11796337_11796339del , CM000663.2:g.11796337_11796339del	GRCh38
NC_000001.10:g.11856394_11856396del , CM000663.1:g.11856394_11856396del	GRCh37
NC_000001.9:g.11778981_11778983del	NCBI36
NG_013351.1:g.14767_14769del , LRG_726:g.14767_14769del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.649_651del	ENSP00000365669.3:p.Lys217del
ENST00000376585.6:c.772_774del	ENSP00000365770.1:p.Lys258del
ENST00000376590.9:c.649_651del MANE Select	ENSP00000365775.3:p.Lys217del
ENST00000376592.6:c.649_651del	ENSP00000365777.1:p.Lys217del
ENST00000423400.7:c.769_771del	ENSP00000398908.3:p.Lys257del
ENST00000641407.1:c.649_651del	ENSP00000493098.1:p.Lys217del
ENST00000641446.1:c.649_651del	ENSP00000493262.1:p.Lys217del
ENST00000641721.1:n.644-989_644-987del
ENST00000641747.1:c.*161_*163del	ENSP00000493116.1:n.*161_*163del
ENST00000641759.1:n.784_786del
ENST00000641805.1:n.932_934del
ENST00000641820.1:c.-87_-85del	ENSP00000492937.1:n.-87_-85del
ENST00000376583.7:c.772_774del	ENSP00000365767.3:p.Lys258del
ENST00000376585.5:c.772_774del	ENSP00000365770.1:p.Lys258del
ENST00000376590.7:c.649_651del	ENSP00000365775.3:p.Lys217del
ENST00000376592.5:c.649_651del	ENSP00000365777.1:p.Lys217del
NM_005957.4:c.649_651del , LRG_726t1:c.649_651del	NP_005948.3:p.Lys217del
XM_005263458.2:c.772_774del	XP_005263515.1:p.Lys258del
XM_005263460.3:c.649_651del	XP_005263517.1:p.Lys217del
XM_005263461.3:c.649_651del	XP_005263518.1:p.Lys217del
XM_005263462.3:c.649_651del	XP_005263519.1:p.Lys217del
XM_005263463.2:c.403_405del	XP_005263520.1:p.Lys135del
XM_011541495.1:c.769_771del	XP_011539797.1:p.Lys257del
XM_011541496.1:c.772_774del	XP_011539798.1:p.Lys258del
NM_001330358.1:c.772_774del	NP_001317287.1:p.Lys258del
XM_005263460.5:c.649_651del	XP_005263517.1:p.Lys217del
XM_005263462.4:c.649_651del	XP_005263519.1:p.Lys217del
XM_005263463.4:c.403_405del	XP_005263520.1:p.Lys135del
XM_011541495.3:c.769_771del	XP_011539797.1:p.Lys257del
XM_011541496.3:c.772_774del	XP_011539798.1:p.Lys258del
XM_017001328.2:c.772_774del	XP_016856817.1:p.Lys258del
XM_024447198.1:c.403_405del	XP_024302966.1:p.Lys135del
XR_002956640.1:n.1516_1518del
NM_005957.5:c.649_651del MANE Select	NP_005948.3:p.Lys217del
NM_001330358.2:c.772_774del	NP_001317287.1:p.Lys258del