Canonical Allele Identifier: CA595432

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 1177042
• ClinVar RCV Id: RCV001532834
• dbSNP Id: rs1994798
• ExAC: 1:11854755 G / A
• gnomAD v2: 1-11854755-G-A
• gnomAD v3: 1-11794698-G-A
• gnomAD v4: 1-11794698-G-A
• MyVariant Identifiers: chr1:g.11854755G>A (hg19) ; chr1:g.11794698G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794698G>A , CM000663.2:g.11794698G>A	GRCh38
NC_000001.10:g.11854755G>A , CM000663.1:g.11854755G>A	GRCh37
NC_000001.9:g.11777342G>A	NCBI36
NG_013351.1:g.16406C>T , LRG_726:g.16406C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1289+31C>T	ENSP00000365770.1:n.1289+31C>T
ENST00000376590.9:c.1166+31C>T MANE Select	ENSP00000365775.3:n.1166+31C>T
ENST00000376592.6:c.1166+31C>T	ENSP00000365777.1:n.1166+31C>T
ENST00000423400.7:c.1286+31C>T	ENSP00000398908.3:n.1286+31C>T
ENST00000641407.1:c.1166+31C>T	ENSP00000493098.1:n.1166+31C>T
ENST00000641446.1:c.1166+31C>T	ENSP00000493262.1:n.1166+31C>T
ENST00000641747.1:c.*678+31C>T	ENSP00000493116.1:n.*678+31C>T
ENST00000641759.1:n.1535+31C>T
ENST00000641805.1:n.1683+31C>T
ENST00000641820.1:c.431+31C>T	ENSP00000492937.1:n.431+31C>T
ENST00000376583.7:c.1289+31C>T	ENSP00000365767.3:n.1289+31C>T
ENST00000376585.5:c.1289+31C>T	ENSP00000365770.1:n.1289+31C>T
ENST00000376590.7:c.1166+31C>T	ENSP00000365775.3:n.1166+31C>T
ENST00000376592.5:c.1166+31C>T	ENSP00000365777.1:n.1166+31C>T
NM_005957.4:c.1166+31C>T , LRG_726t1:c.1166+31C>T	NP_005948.3:n.1166+31C>T
XM_005263458.2:c.1289+31C>T	XP_005263515.1:n.1289+31C>T
XM_005263460.3:c.1166+31C>T	XP_005263517.1:n.1166+31C>T
XM_005263461.3:c.1166+31C>T	XP_005263518.1:n.1166+31C>T
XM_005263462.3:c.1166+31C>T	XP_005263519.1:n.1166+31C>T
XM_005263463.2:c.920+31C>T	XP_005263520.1:n.920+31C>T
XM_011541495.1:c.1286+31C>T	XP_011539797.1:n.1286+31C>T
XM_011541496.1:c.1289+31C>T	XP_011539798.1:n.1289+31C>T
NM_001330358.1:c.1289+31C>T	NP_001317287.1:n.1289+31C>T
XM_005263460.5:c.1166+31C>T	XP_005263517.1:n.1166+31C>T
XM_005263462.4:c.1166+31C>T	XP_005263519.1:n.1166+31C>T
XM_005263463.4:c.920+31C>T	XP_005263520.1:n.920+31C>T
XM_011541495.3:c.1286+31C>T	XP_011539797.1:n.1286+31C>T
XM_011541496.3:c.1289+31C>T	XP_011539798.1:n.1289+31C>T
XM_017001328.2:c.1289+31C>T	XP_016856817.1:n.1289+31C>T
XM_024447198.1:c.920+31C>T	XP_024302966.1:n.920+31C>T
XR_002956640.1:n.2267+31C>T
NM_005957.5:c.1166+31C>T MANE Select	NP_005948.3:n.1166+31C>T
NM_001330358.2:c.1289+31C>T	NP_001317287.1:n.1289+31C>T