Canonical Allele Identifier: CA198630

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 187892
• ClinVar RCV Id: RCV000167612
• dbSNP Id: rs200137991
• gnomAD v2: 1-11854500-C-G
• gnomAD v4: 1-11794443-C-G
• MyVariant Identifiers: chr1:g.11854500C>G (hg19) ; chr1:g.11794443C>G (hg38)
• PubMed: PMID:25736335

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794443C>G , CM000663.2:g.11794443C>G	GRCh38
NC_000001.10:g.11854500C>G , CM000663.1:g.11854500C>G	GRCh37
NC_000001.9:g.11777087C>G	NCBI36
NG_013351.1:g.16661G>C , LRG_726:g.16661G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1385G>C	ENSP00000365770.1:p.Trp462Ser
ENST00000376590.9:c.1262G>C MANE Select	ENSP00000365775.3:p.Trp421Ser
ENST00000376592.6:c.1262G>C	ENSP00000365777.1:p.Trp421Ser
ENST00000423400.7:c.1382G>C	ENSP00000398908.3:p.Trp461Ser
ENST00000641407.1:c.1262G>C	ENSP00000493098.1:p.Trp421Ser
ENST00000641446.1:c.1262G>C	ENSP00000493262.1:p.Trp421Ser
ENST00000641747.1:c.*774G>C	ENSP00000493116.1:n.*774G>C
ENST00000641759.1:n.1631G>C
ENST00000641805.1:n.1779G>C
ENST00000641820.1:c.527G>C	ENSP00000492937.1:p.Trp176Ser
ENST00000376583.7:c.1385G>C	ENSP00000365767.3:p.Trp462Ser
ENST00000376585.5:c.1385G>C	ENSP00000365770.1:p.Trp462Ser
ENST00000376590.7:c.1262G>C	ENSP00000365775.3:p.Trp421Ser
ENST00000376592.5:c.1262G>C	ENSP00000365777.1:p.Trp421Ser
NM_005957.4:c.1262G>C , LRG_726t1:c.1262G>C	NP_005948.3:p.Trp421Ser
XM_005263458.2:c.1385G>C	XP_005263515.1:p.Trp462Ser
XM_005263460.3:c.1262G>C	XP_005263517.1:p.Trp421Ser
XM_005263461.3:c.1262G>C	XP_005263518.1:p.Trp421Ser
XM_005263462.3:c.1262G>C	XP_005263519.1:p.Trp421Ser
XM_005263463.2:c.1016G>C	XP_005263520.1:p.Trp339Ser
XM_011541495.1:c.1382G>C	XP_011539797.1:p.Trp461Ser
XM_011541496.1:c.1385G>C	XP_011539798.1:p.Trp462Ser
NM_001330358.1:c.1385G>C	NP_001317287.1:p.Trp462Ser
XM_005263460.5:c.1262G>C	XP_005263517.1:p.Trp421Ser
XM_005263462.4:c.1262G>C	XP_005263519.1:p.Trp421Ser
XM_005263463.4:c.1016G>C	XP_005263520.1:p.Trp339Ser
XM_011541495.3:c.1382G>C	XP_011539797.1:p.Trp461Ser
XM_011541496.3:c.1385G>C	XP_011539798.1:p.Trp462Ser
XM_017001328.2:c.1385G>C	XP_016856817.1:p.Trp462Ser
XM_024447198.1:c.1016G>C	XP_024302966.1:p.Trp339Ser
XR_002956640.1:n.2363G>C
NM_005957.5:c.1262G>C MANE Select	NP_005948.3:p.Trp421Ser
NM_001330358.2:c.1385G>C	NP_001317287.1:p.Trp462Ser