Canonical Allele Identifier: CA198617

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 187887
• ClinVar RCV Id: RCV000167607
• dbSNP Id: rs786204021
• gnomAD v4: 1-11794853-G-A
• MyVariant Identifiers: chr1:g.11854910G>A (hg19) ; chr1:g.11794853G>A (hg38)
• PubMed: PMID:25736335

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794853G>A , CM000663.2:g.11794853G>A	GRCh38
NC_000001.10:g.11854910G>A , CM000663.1:g.11854910G>A	GRCh37
NC_000001.9:g.11777497G>A	NCBI36
NG_013351.1:g.16251C>T , LRG_726:g.16251C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1165C>T	ENSP00000365770.1:p.Pro389Ser
ENST00000376590.9:c.1042C>T MANE Select	ENSP00000365775.3:p.Pro348Ser
ENST00000376592.6:c.1042C>T	ENSP00000365777.1:p.Pro348Ser
ENST00000423400.7:c.1162C>T	ENSP00000398908.3:p.Pro388Ser
ENST00000641407.1:c.1042C>T	ENSP00000493098.1:p.Pro348Ser
ENST00000641446.1:c.1042C>T	ENSP00000493262.1:p.Pro348Ser
ENST00000641747.1:c.*554C>T	ENSP00000493116.1:n.*554C>T
ENST00000641759.1:n.1411C>T
ENST00000641805.1:n.1559C>T
ENST00000641820.1:c.307C>T	ENSP00000492937.1:p.Pro103Ser
ENST00000376583.7:c.1165C>T	ENSP00000365767.3:p.Pro389Ser
ENST00000376585.5:c.1165C>T	ENSP00000365770.1:p.Pro389Ser
ENST00000376590.7:c.1042C>T	ENSP00000365775.3:p.Pro348Ser
ENST00000376592.5:c.1042C>T	ENSP00000365777.1:p.Pro348Ser
NM_005957.4:c.1042C>T , LRG_726t1:c.1042C>T	NP_005948.3:p.Pro348Ser
XM_005263458.2:c.1165C>T	XP_005263515.1:p.Pro389Ser
XM_005263460.3:c.1042C>T	XP_005263517.1:p.Pro348Ser
XM_005263461.3:c.1042C>T	XP_005263518.1:p.Pro348Ser
XM_005263462.3:c.1042C>T	XP_005263519.1:p.Pro348Ser
XM_005263463.2:c.796C>T	XP_005263520.1:p.Pro266Ser
XM_011541495.1:c.1162C>T	XP_011539797.1:p.Pro388Ser
XM_011541496.1:c.1165C>T	XP_011539798.1:p.Pro389Ser
NM_001330358.1:c.1165C>T	NP_001317287.1:p.Pro389Ser
XM_005263460.5:c.1042C>T	XP_005263517.1:p.Pro348Ser
XM_005263462.4:c.1042C>T	XP_005263519.1:p.Pro348Ser
XM_005263463.4:c.796C>T	XP_005263520.1:p.Pro266Ser
XM_011541495.3:c.1162C>T	XP_011539797.1:p.Pro388Ser
XM_011541496.3:c.1165C>T	XP_011539798.1:p.Pro389Ser
XM_017001328.2:c.1165C>T	XP_016856817.1:p.Pro389Ser
XM_024447198.1:c.796C>T	XP_024302966.1:p.Pro266Ser
XR_002956640.1:n.2143C>T
NM_005957.5:c.1042C>T MANE Select	NP_005948.3:p.Pro348Ser
NM_001330358.2:c.1165C>T	NP_001317287.1:p.Pro389Ser