Canonical Allele Identifier: CA998621990

Gene: MTHFR

Linked Data

• dbSNP Id: rs1644255482
• gnomAD v3: 1-11796348-TGCTTCAGGTCAGCCTCAAA-T
• gnomAD v4: 1-11796348-TGCTTCAGGTCAGCCTCAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11796352_11796370del , CM000663.2:g.11796352_11796370del	GRCh38
NC_000001.10:g.11856409_11856427del , CM000663.1:g.11856409_11856427del	GRCh37
NC_000001.9:g.11778996_11779014del	NCBI36
NG_013351.1:g.14737_14755del , LRG_726:g.14737_14755del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.619_637del	ENSP00000365669.3:p.Phe207ThrfsTer2
ENST00000376585.6:c.742_760del	ENSP00000365770.1:p.Phe248ThrfsTer2
ENST00000376590.9:c.619_637del MANE Select	ENSP00000365775.3:p.Phe207ThrfsTer2
ENST00000376592.6:c.619_637del	ENSP00000365777.1:p.Phe207ThrfsTer2
ENST00000423400.7:c.739_757del	ENSP00000398908.3:p.Phe247ThrfsTer2
ENST00000641407.1:c.619_637del	ENSP00000493098.1:p.Phe207ThrfsTer2
ENST00000641446.1:c.619_637del	ENSP00000493262.1:p.Phe207ThrfsTer2
ENST00000641721.1:n.644-1019_644-1001del
ENST00000641747.1:c.*131_*149del	ENSP00000493116.1:n.*131_*149del
ENST00000641759.1:n.754_772del
ENST00000641805.1:n.902_920del
ENST00000641820.1:c.-117_-99del	ENSP00000492937.1:n.-117_-99del
ENST00000376583.7:c.742_760del	ENSP00000365767.3:p.Phe248ThrfsTer2
ENST00000376585.5:c.742_760del	ENSP00000365770.1:p.Phe248ThrfsTer2
ENST00000376590.7:c.619_637del	ENSP00000365775.3:p.Phe207ThrfsTer2
ENST00000376592.5:c.619_637del	ENSP00000365777.1:p.Phe207ThrfsTer2
NM_005957.4:c.619_637del , LRG_726t1:c.619_637del	NP_005948.3:p.Phe207ThrfsTer2
XM_005263458.2:c.742_760del	XP_005263515.1:p.Phe248ThrfsTer2
XM_005263460.3:c.619_637del	XP_005263517.1:p.Phe207ThrfsTer2
XM_005263461.3:c.619_637del	XP_005263518.1:p.Phe207ThrfsTer2
XM_005263462.3:c.619_637del	XP_005263519.1:p.Phe207ThrfsTer2
XM_005263463.2:c.373_391del	XP_005263520.1:p.Phe125ThrfsTer2
XM_011541495.1:c.739_757del	XP_011539797.1:p.Phe247ThrfsTer2
XM_011541496.1:c.742_760del	XP_011539798.1:p.Phe248ThrfsTer2
NM_001330358.1:c.742_760del	NP_001317287.1:p.Phe248ThrfsTer2
XM_005263460.5:c.619_637del	XP_005263517.1:p.Phe207ThrfsTer2
XM_005263462.4:c.619_637del	XP_005263519.1:p.Phe207ThrfsTer2
XM_005263463.4:c.373_391del	XP_005263520.1:p.Phe125ThrfsTer2
XM_011541495.3:c.739_757del	XP_011539797.1:p.Phe247ThrfsTer2
XM_011541496.3:c.742_760del	XP_011539798.1:p.Phe248ThrfsTer2
XM_017001328.2:c.742_760del	XP_016856817.1:p.Phe248ThrfsTer2
XM_024447198.1:c.373_391del	XP_024302966.1:p.Phe125ThrfsTer2
XR_002956640.1:n.1486_1504del
NM_005957.5:c.619_637del MANE Select	NP_005948.3:p.Phe207ThrfsTer2
NM_001330358.2:c.742_760del	NP_001317287.1:p.Phe248ThrfsTer2