Canonical Allele Identifier: CA595186

Gene: MTHFR

Linked Data

• dbSNP Id: rs762599135
• ExAC: 1:11850933 A / G
• gnomAD v2: 1-11850933-A-G
• gnomAD v3: 1-11790876-A-G
• gnomAD v4: 1-11790876-A-G
• MyVariant Identifiers: chr1:g.11850933A>G (hg19) ; chr1:g.11790876A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790876A>G , CM000663.2:g.11790876A>G	GRCh38
NC_000001.10:g.11850933A>G , CM000663.1:g.11850933A>G	GRCh37
NC_000001.9:g.11773520A>G	NCBI36
NG_013351.1:g.20228T>C , LRG_726:g.20228T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1898T>C	ENSP00000365770.1:p.Ile633Thr
ENST00000376590.9:c.1775T>C MANE Select	ENSP00000365775.3:p.Ile592Thr
ENST00000376592.6:c.1775T>C	ENSP00000365777.1:p.Ile592Thr
ENST00000423400.7:c.1895T>C	ENSP00000398908.3:p.Ile632Thr
ENST00000641407.1:c.1753-160T>C	ENSP00000493098.1:n.1753-160T>C
ENST00000641446.1:c.*234T>C	ENSP00000493262.1:n.*234T>C
ENST00000641747.1:c.*1287T>C	ENSP00000493116.1:n.*1287T>C
ENST00000641759.1:n.2144T>C
ENST00000641805.1:n.2270-160T>C
ENST00000641820.1:c.1040T>C	ENSP00000492937.1:p.Ile347Thr
ENST00000376583.7:c.1898T>C	ENSP00000365767.3:p.Ile633Thr
ENST00000376585.5:c.1898T>C	ENSP00000365770.1:p.Ile633Thr
ENST00000376590.7:c.1775T>C	ENSP00000365775.3:p.Ile592Thr
ENST00000376592.5:c.1775T>C	ENSP00000365777.1:p.Ile592Thr
NM_005957.4:c.1775T>C , LRG_726t1:c.1775T>C	NP_005948.3:p.Ile592Thr
XM_005263458.2:c.1898T>C	XP_005263515.1:p.Ile633Thr
XM_005263460.3:c.1775T>C	XP_005263517.1:p.Ile592Thr
XM_005263461.3:c.1775T>C	XP_005263518.1:p.Ile592Thr
XM_005263462.3:c.1775T>C	XP_005263519.1:p.Ile592Thr
XM_005263463.2:c.1529T>C	XP_005263520.1:p.Ile510Thr
XM_011541495.1:c.1895T>C	XP_011539797.1:p.Ile632Thr
XM_011541496.1:c.1876-160T>C	XP_011539798.1:n.1876-160T>C
NM_001330358.1:c.1898T>C	NP_001317287.1:p.Ile633Thr
XM_005263460.5:c.1775T>C	XP_005263517.1:p.Ile592Thr
XM_005263462.4:c.1775T>C	XP_005263519.1:p.Ile592Thr
XM_005263463.4:c.1529T>C	XP_005263520.1:p.Ile510Thr
XM_011541495.3:c.1895T>C	XP_011539797.1:p.Ile632Thr
XM_011541496.3:c.1876-160T>C	XP_011539798.1:n.1876-160T>C
XM_017001328.2:c.1876-128T>C	XP_016856817.1:n.1876-128T>C
XM_024447198.1:c.1529T>C	XP_024302966.1:p.Ile510Thr
XR_002956640.1:n.2854-160T>C
NM_005957.5:c.1775T>C MANE Select	NP_005948.3:p.Ile592Thr
NM_001330358.2:c.1898T>C	NP_001317287.1:p.Ile633Thr