Canonical Allele Identifier: CA416119573

Gene: MTHFR

Linked Data

• MyVariant Identifiers: chr1:g.11850851G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790794G>T , CM000663.2:g.11790794G>T	GRCh38
NC_000001.10:g.11850851G>T , CM000663.1:g.11850851G>T	GRCh37
NC_000001.9:g.11773438G>T	NCBI36
NG_013351.1:g.20310C>A , LRG_726:g.20310C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1980C>A	ENSP00000365770.1:p.Val660=
ENST00000376590.9:c.1857C>A MANE Select	ENSP00000365775.3:p.Val619=
ENST00000376592.6:c.1857C>A	ENSP00000365777.1:p.Val619=
ENST00000423400.7:c.1977C>A	ENSP00000398908.3:p.Val659=
ENST00000641407.1:c.1753-78C>A	ENSP00000493098.1:n.1753-78C>A
ENST00000641446.1:c.*316C>A	ENSP00000493262.1:n.*316C>A
ENST00000641747.1:c.*1369C>A	ENSP00000493116.1:n.*1369C>A
ENST00000641759.1:n.2226C>A
ENST00000641805.1:n.2270-78C>A
ENST00000641820.1:c.1122C>A	ENSP00000492937.1:p.Val374=
ENST00000376583.7:c.1980C>A	ENSP00000365767.3:p.Val660=
ENST00000376585.5:c.1980C>A	ENSP00000365770.1:p.Val660=
ENST00000376590.7:c.1857C>A	ENSP00000365775.3:p.Val619=
ENST00000376592.5:c.1857C>A	ENSP00000365777.1:p.Val619=
NM_005957.4:c.1857C>A , LRG_726t1:c.1857C>A	NP_005948.3:p.Val619=
XM_005263458.2:c.1980C>A	XP_005263515.1:p.Val660=
XM_005263460.3:c.1857C>A	XP_005263517.1:p.Val619=
XM_005263461.3:c.1857C>A	XP_005263518.1:p.Val619=
XM_005263462.3:c.1857C>A	XP_005263519.1:p.Val619=
XM_005263463.2:c.1611C>A	XP_005263520.1:p.Val537=
XM_011541495.1:c.1977C>A	XP_011539797.1:p.Val659=
XM_011541496.1:c.1876-78C>A	XP_011539798.1:n.1876-78C>A
NM_001330358.1:c.1980C>A	NP_001317287.1:p.Val660=
XM_005263460.5:c.1857C>A	XP_005263517.1:p.Val619=
XM_005263462.4:c.1857C>A	XP_005263519.1:p.Val619=
XM_005263463.4:c.1611C>A	XP_005263520.1:p.Val537=
XM_011541495.3:c.1977C>A	XP_011539797.1:p.Val659=
XM_011541496.3:c.1876-78C>A	XP_011539798.1:n.1876-78C>A
XM_017001328.2:c.1876-46C>A	XP_016856817.1:n.1876-46C>A
XM_024447198.1:c.1611C>A	XP_024302966.1:p.Val537=
XR_002956640.1:n.2854-78C>A
NM_005957.5:c.1857C>A MANE Select	NP_005948.3:p.Val619=
NM_001330358.2:c.1980C>A	NP_001317287.1:p.Val660=