Canonical Allele Identifier: CA338480622

Gene: MTHFR

Linked Data

• dbSNP Id: rs2100537970
• MyVariant Identifiers: chr1:g.11856305C>G (hg19) ; chr1:g.11796248C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11796248C>G , CM000663.2:g.11796248C>G	GRCh38
NC_000001.10:g.11856305C>G , CM000663.1:g.11856305C>G	GRCh37
NC_000001.9:g.11778892C>G	NCBI36
NG_013351.1:g.14856G>C , LRG_726:g.14856G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.861G>C	ENSP00000365770.1:p.Met287Ile
ENST00000376590.9:c.738G>C MANE Select	ENSP00000365775.3:p.Met246Ile
ENST00000376592.6:c.738G>C	ENSP00000365777.1:p.Met246Ile
ENST00000423400.7:c.858G>C	ENSP00000398908.3:p.Met286Ile
ENST00000641407.1:c.738G>C	ENSP00000493098.1:p.Met246Ile
ENST00000641446.1:c.738G>C	ENSP00000493262.1:p.Met246Ile
ENST00000641721.1:n.644-900G>C
ENST00000641747.1:c.*250G>C	ENSP00000493116.1:n.*250G>C
ENST00000641759.1:n.873G>C
ENST00000641805.1:n.1021G>C
ENST00000641820.1:c.3G>C	ENSP00000492937.1:p.Met1Ile
ENST00000376583.7:c.861G>C	ENSP00000365767.3:p.Met287Ile
ENST00000376585.5:c.861G>C	ENSP00000365770.1:p.Met287Ile
ENST00000376590.7:c.738G>C	ENSP00000365775.3:p.Met246Ile
ENST00000376592.5:c.738G>C	ENSP00000365777.1:p.Met246Ile
NM_005957.4:c.738G>C , LRG_726t1:c.738G>C	NP_005948.3:p.Met246Ile
XM_005263458.2:c.861G>C	XP_005263515.1:p.Met287Ile
XM_005263460.3:c.738G>C	XP_005263517.1:p.Met246Ile
XM_005263461.3:c.738G>C	XP_005263518.1:p.Met246Ile
XM_005263462.3:c.738G>C	XP_005263519.1:p.Met246Ile
XM_005263463.2:c.492G>C	XP_005263520.1:p.Met164Ile
XM_011541495.1:c.858G>C	XP_011539797.1:p.Met286Ile
XM_011541496.1:c.861G>C	XP_011539798.1:p.Met287Ile
NM_001330358.1:c.861G>C	NP_001317287.1:p.Met287Ile
XM_005263460.5:c.738G>C	XP_005263517.1:p.Met246Ile
XM_005263462.4:c.738G>C	XP_005263519.1:p.Met246Ile
XM_005263463.4:c.492G>C	XP_005263520.1:p.Met164Ile
XM_011541495.3:c.858G>C	XP_011539797.1:p.Met286Ile
XM_011541496.3:c.861G>C	XP_011539798.1:p.Met287Ile
XM_017001328.2:c.861G>C	XP_016856817.1:p.Met287Ile
XM_024447198.1:c.492G>C	XP_024302966.1:p.Met164Ile
XR_002956640.1:n.1605G>C
NM_005957.5:c.738G>C MANE Select	NP_005948.3:p.Met246Ile
NM_001330358.2:c.861G>C	NP_001317287.1:p.Met287Ile