Canonical Allele Identifier: CA595240

Gene: MTHFR

Linked Data

• dbSNP Id: rs770471347
• ExAC: 1:11851278 A / G
• gnomAD v2: 1-11851278-A-G
• gnomAD v3: 1-11791221-A-G
• gnomAD v4: 1-11791221-A-G
• COSMIC: COSM4021158 ; COSM4021159
• MyVariant Identifiers: chr1:g.11851278A>G (hg19) ; chr1:g.11791221A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11791221A>G , CM000663.2:g.11791221A>G	GRCh38
NC_000001.10:g.11851278A>G , CM000663.1:g.11851278A>G	GRCh37
NC_000001.9:g.11773865A>G	NCBI36
NG_013351.1:g.19883T>C , LRG_726:g.19883T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1861T>C	ENSP00000365770.1:p.Phe621Leu
ENST00000376590.9:c.1738T>C MANE Select	ENSP00000365775.3:p.Phe580Leu
ENST00000376592.6:c.1738T>C	ENSP00000365777.1:p.Phe580Leu
ENST00000423400.7:c.1858T>C	ENSP00000398908.3:p.Phe620Leu
ENST00000641407.1:c.1738T>C	ENSP00000493098.1:p.Phe580Leu
ENST00000641446.1:c.*197T>C	ENSP00000493262.1:n.*197T>C
ENST00000641747.1:c.*1250T>C	ENSP00000493116.1:n.*1250T>C
ENST00000641759.1:n.2107T>C
ENST00000641805.1:n.2255T>C
ENST00000641820.1:c.1003T>C	ENSP00000492937.1:p.Phe335Leu
ENST00000376583.7:c.1861T>C	ENSP00000365767.3:p.Phe621Leu
ENST00000376585.5:c.1861T>C	ENSP00000365770.1:p.Phe621Leu
ENST00000376590.7:c.1738T>C	ENSP00000365775.3:p.Phe580Leu
ENST00000376592.5:c.1738T>C	ENSP00000365777.1:p.Phe580Leu
NM_005957.4:c.1738T>C , LRG_726t1:c.1738T>C	NP_005948.3:p.Phe580Leu
XM_005263458.2:c.1861T>C	XP_005263515.1:p.Phe621Leu
XM_005263460.3:c.1738T>C	XP_005263517.1:p.Phe580Leu
XM_005263461.3:c.1738T>C	XP_005263518.1:p.Phe580Leu
XM_005263462.3:c.1738T>C	XP_005263519.1:p.Phe580Leu
XM_005263463.2:c.1492T>C	XP_005263520.1:p.Phe498Leu
XM_011541495.1:c.1858T>C	XP_011539797.1:p.Phe620Leu
XM_011541496.1:c.1861T>C	XP_011539798.1:p.Phe621Leu
NM_001330358.1:c.1861T>C	NP_001317287.1:p.Phe621Leu
XM_005263460.5:c.1738T>C	XP_005263517.1:p.Phe580Leu
XM_005263462.4:c.1738T>C	XP_005263519.1:p.Phe580Leu
XM_005263463.4:c.1492T>C	XP_005263520.1:p.Phe498Leu
XM_011541495.3:c.1858T>C	XP_011539797.1:p.Phe620Leu
XM_011541496.3:c.1861T>C	XP_011539798.1:p.Phe621Leu
XM_017001328.2:c.1861T>C	XP_016856817.1:p.Phe621Leu
XM_024447198.1:c.1492T>C	XP_024302966.1:p.Phe498Leu
XR_002956640.1:n.2839T>C
NM_005957.5:c.1738T>C MANE Select	NP_005948.3:p.Phe580Leu
NM_001330358.2:c.1861T>C	NP_001317287.1:p.Phe621Leu