Canonical Allele Identifier: CA198644

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 187898
• ClinVar RCV Id: RCV000167618 ; RCV000709684 ; RCV003468816
• dbSNP Id: rs786204030
• MyVariant Identifiers: chr1:g.11851333C>T (hg19) ; chr1:g.11791276C>T (hg38)
• PubMed: PMID:25736335

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11791276C>T , CM000663.2:g.11791276C>T	GRCh38
NC_000001.10:g.11851333C>T , CM000663.1:g.11851333C>T	GRCh37
NC_000001.9:g.11773920C>T	NCBI36
NG_013351.1:g.19828G>A , LRG_726:g.19828G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1806G>A	ENSP00000365770.1:p.Trp602Ter
ENST00000376590.9:c.1683G>A MANE Select	ENSP00000365775.3:p.Trp561Ter
ENST00000376592.6:c.1683G>A	ENSP00000365777.1:p.Trp561Ter
ENST00000423400.7:c.1803G>A	ENSP00000398908.3:p.Trp601Ter
ENST00000641407.1:c.1683G>A	ENSP00000493098.1:p.Trp561Ter
ENST00000641446.1:c.*142G>A	ENSP00000493262.1:n.*142G>A
ENST00000641747.1:c.*1195G>A	ENSP00000493116.1:n.*1195G>A
ENST00000641759.1:n.2052G>A
ENST00000641805.1:n.2200G>A
ENST00000641820.1:c.948G>A	ENSP00000492937.1:p.Trp316Ter
ENST00000376583.7:c.1806G>A	ENSP00000365767.3:p.Trp602Ter
ENST00000376585.5:c.1806G>A	ENSP00000365770.1:p.Trp602Ter
ENST00000376590.7:c.1683G>A	ENSP00000365775.3:p.Trp561Ter
ENST00000376592.5:c.1683G>A	ENSP00000365777.1:p.Trp561Ter
NM_005957.4:c.1683G>A , LRG_726t1:c.1683G>A	NP_005948.3:p.Trp561Ter
XM_005263458.2:c.1806G>A	XP_005263515.1:p.Trp602Ter
XM_005263460.3:c.1683G>A	XP_005263517.1:p.Trp561Ter
XM_005263461.3:c.1683G>A	XP_005263518.1:p.Trp561Ter
XM_005263462.3:c.1683G>A	XP_005263519.1:p.Trp561Ter
XM_005263463.2:c.1437G>A	XP_005263520.1:p.Trp479Ter
XM_011541495.1:c.1803G>A	XP_011539797.1:p.Trp601Ter
XM_011541496.1:c.1806G>A	XP_011539798.1:p.Trp602Ter
NM_001330358.1:c.1806G>A	NP_001317287.1:p.Trp602Ter
XM_005263460.5:c.1683G>A	XP_005263517.1:p.Trp561Ter
XM_005263462.4:c.1683G>A	XP_005263519.1:p.Trp561Ter
XM_005263463.4:c.1437G>A	XP_005263520.1:p.Trp479Ter
XM_011541495.3:c.1803G>A	XP_011539797.1:p.Trp601Ter
XM_011541496.3:c.1806G>A	XP_011539798.1:p.Trp602Ter
XM_017001328.2:c.1806G>A	XP_016856817.1:p.Trp602Ter
XM_024447198.1:c.1437G>A	XP_024302966.1:p.Trp479Ter
XR_002956640.1:n.2784G>A
NM_005957.5:c.1683G>A MANE Select	NP_005948.3:p.Trp561Ter
NM_001330358.2:c.1806G>A	NP_001317287.1:p.Trp602Ter