Canonical Allele Identifier: CA998623552

Gene: MTHFR

Linked Data

• dbSNP Id: rs1644360588
• gnomAD v3: 1-11800512-A-AGTTCAATATTCACTGCATGCT
• gnomAD v4: 1-11800512-A-AGTTCAATATTCACTGCATGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11800514_11800534dup , CM000663.2:g.11800514_11800534dup	GRCh38
NC_000001.10:g.11860571_11860591dup , CM000663.1:g.11860571_11860591dup	GRCh37
NC_000001.9:g.11783158_11783178dup	NCBI36
NG_013351.1:g.10571_10591dup , LRG_726:g.10571_10591dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.476-211_476-191dup	ENSP00000365669.3:n.476-211_476-191dup
ENST00000376585.6:c.599-211_599-191dup	ENSP00000365770.1:n.599-211_599-191dup
ENST00000376590.9:c.476-211_476-191dup MANE Select	ENSP00000365775.3:n.476-211_476-191dup
ENST00000376592.6:c.476-211_476-191dup	ENSP00000365777.1:n.476-211_476-191dup
ENST00000423400.7:c.596-211_596-191dup	ENSP00000398908.3:n.596-211_596-191dup
ENST00000641407.1:c.476-211_476-191dup	ENSP00000493098.1:n.476-211_476-191dup
ENST00000641437.1:n.1235_1255dup
ENST00000641446.1:c.476-211_476-191dup	ENSP00000493262.1:n.476-211_476-191dup
ENST00000641721.1:n.533-211_533-191dup
ENST00000641747.1:c.237-211_237-191dup	ENSP00000493116.1:n.237-211_237-191dup
ENST00000641759.1:n.611-211_611-191dup
ENST00000641805.1:n.759-211_759-191dup
ENST00000641909.1:n.1513_1533dup
ENST00000376583.7:c.599-211_599-191dup	ENSP00000365767.3:n.599-211_599-191dup
ENST00000376585.5:c.599-211_599-191dup	ENSP00000365770.1:n.599-211_599-191dup
ENST00000376590.7:c.476-211_476-191dup	ENSP00000365775.3:n.476-211_476-191dup
ENST00000376592.5:c.476-211_476-191dup	ENSP00000365777.1:n.476-211_476-191dup
NM_005957.4:c.476-211_476-191dup , LRG_726t1:c.476-211_476-191dup	NP_005948.3:n.476-211_476-191dup
XM_005263458.2:c.599-211_599-191dup	XP_005263515.1:n.599-211_599-191dup
XM_005263460.3:c.476-211_476-191dup	XP_005263517.1:n.476-211_476-191dup
XM_005263461.3:c.476-211_476-191dup	XP_005263518.1:n.476-211_476-191dup
XM_005263462.3:c.476-211_476-191dup	XP_005263519.1:n.476-211_476-191dup
XM_005263463.2:c.230-211_230-191dup	XP_005263520.1:n.230-211_230-191dup
XM_011541495.1:c.596-211_596-191dup	XP_011539797.1:n.596-211_596-191dup
XM_011541496.1:c.599-211_599-191dup	XP_011539798.1:n.599-211_599-191dup
NM_001330358.1:c.599-211_599-191dup	NP_001317287.1:n.599-211_599-191dup
XM_005263460.5:c.476-211_476-191dup	XP_005263517.1:n.476-211_476-191dup
XM_005263462.4:c.476-211_476-191dup	XP_005263519.1:n.476-211_476-191dup
XM_005263463.4:c.230-211_230-191dup	XP_005263520.1:n.230-211_230-191dup
XM_011541495.3:c.596-211_596-191dup	XP_011539797.1:n.596-211_596-191dup
XM_011541496.3:c.599-211_599-191dup	XP_011539798.1:n.599-211_599-191dup
XM_017001328.2:c.599-211_599-191dup	XP_016856817.1:n.599-211_599-191dup
XM_024447198.1:c.230-211_230-191dup	XP_024302966.1:n.230-211_230-191dup
XR_002956640.1:n.1343-211_1343-191dup
NM_005957.5:c.476-211_476-191dup MANE Select	NP_005948.3:n.476-211_476-191dup
NM_001330358.2:c.599-211_599-191dup	NP_001317287.1:n.599-211_599-191dup