Canonical Allele Identifier: CA416119700

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11790881-C-A
• MyVariant Identifiers: chr1:g.11850938C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790881C>A , CM000663.2:g.11790881C>A	GRCh38
NC_000001.10:g.11850938C>A , CM000663.1:g.11850938C>A	GRCh37
NC_000001.9:g.11773525C>A	NCBI36
NG_013351.1:g.20223G>T , LRG_726:g.20223G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1893G>T	ENSP00000365770.1:p.Leu631=
ENST00000376590.9:c.1770G>T MANE Select	ENSP00000365775.3:p.Leu590=
ENST00000376592.6:c.1770G>T	ENSP00000365777.1:p.Leu590=
ENST00000423400.7:c.1890G>T	ENSP00000398908.3:p.Leu630=
ENST00000641407.1:c.1753-165G>T	ENSP00000493098.1:n.1753-165G>T
ENST00000641446.1:c.*229G>T	ENSP00000493262.1:n.*229G>T
ENST00000641747.1:c.*1282G>T	ENSP00000493116.1:n.*1282G>T
ENST00000641759.1:n.2139G>T
ENST00000641805.1:n.2270-165G>T
ENST00000641820.1:c.1035G>T	ENSP00000492937.1:p.Leu345=
ENST00000376583.7:c.1893G>T	ENSP00000365767.3:p.Leu631=
ENST00000376585.5:c.1893G>T	ENSP00000365770.1:p.Leu631=
ENST00000376590.7:c.1770G>T	ENSP00000365775.3:p.Leu590=
ENST00000376592.5:c.1770G>T	ENSP00000365777.1:p.Leu590=
NM_005957.4:c.1770G>T , LRG_726t1:c.1770G>T	NP_005948.3:p.Leu590=
XM_005263458.2:c.1893G>T	XP_005263515.1:p.Leu631=
XM_005263460.3:c.1770G>T	XP_005263517.1:p.Leu590=
XM_005263461.3:c.1770G>T	XP_005263518.1:p.Leu590=
XM_005263462.3:c.1770G>T	XP_005263519.1:p.Leu590=
XM_005263463.2:c.1524G>T	XP_005263520.1:p.Leu508=
XM_011541495.1:c.1890G>T	XP_011539797.1:p.Leu630=
XM_011541496.1:c.1876-165G>T	XP_011539798.1:n.1876-165G>T
NM_001330358.1:c.1893G>T	NP_001317287.1:p.Leu631=
XM_005263460.5:c.1770G>T	XP_005263517.1:p.Leu590=
XM_005263462.4:c.1770G>T	XP_005263519.1:p.Leu590=
XM_005263463.4:c.1524G>T	XP_005263520.1:p.Leu508=
XM_011541495.3:c.1890G>T	XP_011539797.1:p.Leu630=
XM_011541496.3:c.1876-165G>T	XP_011539798.1:n.1876-165G>T
XM_017001328.2:c.1876-133G>T	XP_016856817.1:n.1876-133G>T
XM_024447198.1:c.1524G>T	XP_024302966.1:p.Leu508=
XR_002956640.1:n.2854-165G>T
NM_005957.5:c.1770G>T MANE Select	NP_005948.3:p.Leu590=
NM_001330358.2:c.1893G>T	NP_001317287.1:p.Leu631=