Canonical Allele Identifier: CA2643295044

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11794302-T-TGGGGTCAGGCCAGGGGCAGGGGATGAACC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794303_11794331dup , CM000663.2:g.11794303_11794331dup	GRCh38
NC_000001.10:g.11854360_11854388dup , CM000663.1:g.11854360_11854388dup	GRCh37
NC_000001.9:g.11776947_11776975dup	NCBI36
NG_013351.1:g.16773_16801dup , LRG_726:g.16773_16801dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1470+27_1470+55dup	ENSP00000365770.1:n.1470+27_1470+55dup
ENST00000376590.9:c.1347+27_1347+55dup MANE Select	ENSP00000365775.3:n.1347+27_1347+55dup
ENST00000376592.6:c.1347+27_1347+55dup	ENSP00000365777.1:n.1347+27_1347+55dup
ENST00000423400.7:c.1467+27_1467+55dup	ENSP00000398908.3:n.1467+27_1467+55dup
ENST00000641407.1:c.1347+27_1347+55dup	ENSP00000493098.1:n.1347+27_1347+55dup
ENST00000641446.1:c.1347+27_1347+55dup	ENSP00000493262.1:n.1347+27_1347+55dup
ENST00000641747.1:c.*859+27_*859+55dup	ENSP00000493116.1:n.*859+27_*859+55dup
ENST00000641759.1:n.1716+27_1716+55dup
ENST00000641805.1:n.1864+27_1864+55dup
ENST00000641820.1:c.612+27_612+55dup	ENSP00000492937.1:n.612+27_612+55dup
ENST00000376583.7:c.1470+27_1470+55dup	ENSP00000365767.3:n.1470+27_1470+55dup
ENST00000376585.5:c.1470+27_1470+55dup	ENSP00000365770.1:n.1470+27_1470+55dup
ENST00000376590.7:c.1347+27_1347+55dup	ENSP00000365775.3:n.1347+27_1347+55dup
ENST00000376592.5:c.1347+27_1347+55dup	ENSP00000365777.1:n.1347+27_1347+55dup
NM_005957.4:c.1347+27_1347+55dup , LRG_726t1:c.1347+27_1347+55dup	NP_005948.3:n.1347+27_1347+55dup
XM_005263458.2:c.1470+27_1470+55dup	XP_005263515.1:n.1470+27_1470+55dup
XM_005263460.3:c.1347+27_1347+55dup	XP_005263517.1:n.1347+27_1347+55dup
XM_005263461.3:c.1347+27_1347+55dup	XP_005263518.1:n.1347+27_1347+55dup
XM_005263462.3:c.1347+27_1347+55dup	XP_005263519.1:n.1347+27_1347+55dup
XM_005263463.2:c.1101+27_1101+55dup	XP_005263520.1:n.1101+27_1101+55dup
XM_011541495.1:c.1467+27_1467+55dup	XP_011539797.1:n.1467+27_1467+55dup
XM_011541496.1:c.1470+27_1470+55dup	XP_011539798.1:n.1470+27_1470+55dup
NM_001330358.1:c.1470+27_1470+55dup	NP_001317287.1:n.1470+27_1470+55dup
XM_005263460.5:c.1347+27_1347+55dup	XP_005263517.1:n.1347+27_1347+55dup
XM_005263462.4:c.1347+27_1347+55dup	XP_005263519.1:n.1347+27_1347+55dup
XM_005263463.4:c.1101+27_1101+55dup	XP_005263520.1:n.1101+27_1101+55dup
XM_011541495.3:c.1467+27_1467+55dup	XP_011539797.1:n.1467+27_1467+55dup
XM_011541496.3:c.1470+27_1470+55dup	XP_011539798.1:n.1470+27_1470+55dup
XM_017001328.2:c.1470+27_1470+55dup	XP_016856817.1:n.1470+27_1470+55dup
XM_024447198.1:c.1101+27_1101+55dup	XP_024302966.1:n.1101+27_1101+55dup
XR_002956640.1:n.2448+27_2448+55dup
NM_005957.5:c.1347+27_1347+55dup MANE Select	NP_005948.3:n.1347+27_1347+55dup
NM_001330358.2:c.1470+27_1470+55dup	NP_001317287.1:n.1470+27_1470+55dup