Canonical Allele Identifier: CA595301

Gene: MTHFR

Linked Data

• dbSNP Id: rs751597875
• ExAC: 1:11852427 C / CTA
• gnomAD v2: 1-11852427-C-CTA
• gnomAD v4: 1-11792370-C-CTA
• MyVariant Identifiers: chr1:g.11852427_11852428insTA (hg19) ; chr1:g.11792370_11792371insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11792371_11792372dup , CM000663.2:g.11792371_11792372dup	GRCh38
NC_000001.10:g.11852428_11852429dup , CM000663.1:g.11852428_11852429dup	GRCh37
NC_000001.9:g.11775015_11775016dup	NCBI36
NG_013351.1:g.18732_18733dup , LRG_726:g.18732_18733dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1661_1662dup	ENSP00000365770.1:p.Glu555Ter
ENST00000376590.9:c.1538_1539dup MANE Select	ENSP00000365775.3:p.Glu514Ter
ENST00000376592.6:c.1538_1539dup	ENSP00000365777.1:p.Glu514Ter
ENST00000423400.7:c.1658_1659dup	ENSP00000398908.3:p.Glu554Ter
ENST00000641407.1:c.1538_1539dup	ENSP00000493098.1:p.Glu514Ter
ENST00000641446.1:c.1538_1539dup	ENSP00000493262.1:p.Glu514Ter
ENST00000641747.1:c.*1050_*1051dup	ENSP00000493116.1:n.*1050_*1051dup
ENST00000641759.1:n.1907_1908dup
ENST00000641805.1:n.2055_2056dup
ENST00000641820.1:c.803_804dup	ENSP00000492937.1:p.Glu269Ter
ENST00000376583.7:c.1661_1662dup	ENSP00000365767.3:p.Glu555Ter
ENST00000376585.5:c.1661_1662dup	ENSP00000365770.1:p.Glu555Ter
ENST00000376590.7:c.1538_1539dup	ENSP00000365775.3:p.Glu514Ter
ENST00000376592.5:c.1538_1539dup	ENSP00000365777.1:p.Glu514Ter
NM_005957.4:c.1538_1539dup , LRG_726t1:c.1538_1539dup	NP_005948.3:p.Glu514Ter
XM_005263458.2:c.1661_1662dup	XP_005263515.1:p.Glu555Ter
XM_005263460.3:c.1538_1539dup	XP_005263517.1:p.Glu514Ter
XM_005263461.3:c.1538_1539dup	XP_005263518.1:p.Glu514Ter
XM_005263462.3:c.1538_1539dup	XP_005263519.1:p.Glu514Ter
XM_005263463.2:c.1292_1293dup	XP_005263520.1:p.Glu432Ter
XM_011541495.1:c.1658_1659dup	XP_011539797.1:p.Glu554Ter
XM_011541496.1:c.1661_1662dup	XP_011539798.1:p.Glu555Ter
NM_001330358.1:c.1661_1662dup	NP_001317287.1:p.Glu555Ter
XM_005263460.5:c.1538_1539dup	XP_005263517.1:p.Glu514Ter
XM_005263462.4:c.1538_1539dup	XP_005263519.1:p.Glu514Ter
XM_005263463.4:c.1292_1293dup	XP_005263520.1:p.Glu432Ter
XM_011541495.3:c.1658_1659dup	XP_011539797.1:p.Glu554Ter
XM_011541496.3:c.1661_1662dup	XP_011539798.1:p.Glu555Ter
XM_017001328.2:c.1661_1662dup	XP_016856817.1:p.Glu555Ter
XM_024447198.1:c.1292_1293dup	XP_024302966.1:p.Glu432Ter
XR_002956640.1:n.2639_2640dup
NM_005957.5:c.1538_1539dup MANE Select	NP_005948.3:p.Glu514Ter
NM_001330358.2:c.1661_1662dup	NP_001317287.1:p.Glu555Ter