Canonical Allele Identifier: CA595542

Gene: MTHFR

Linked Data

• dbSNP Id: rs763419970
• ExAC: 1:11855440 G / C
• gnomAD v2: 1-11855440-G-C
• gnomAD v4: 1-11795383-G-C
• MyVariant Identifiers: chr1:g.11855440G>C (hg19) ; chr1:g.11795383G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795383G>C , CM000663.2:g.11795383G>C	GRCh38
NC_000001.10:g.11855440G>C , CM000663.1:g.11855440G>C	GRCh37
NC_000001.9:g.11778027G>C	NCBI36
NG_013351.1:g.15721C>G , LRG_726:g.15721C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.904-35C>G	ENSP00000365770.1:n.904-35C>G
ENST00000376590.9:c.781-35C>G MANE Select	ENSP00000365775.3:n.781-35C>G
ENST00000376592.6:c.781-35C>G	ENSP00000365777.1:n.781-35C>G
ENST00000423400.7:c.901-35C>G	ENSP00000398908.3:n.901-35C>G
ENST00000641407.1:c.781-35C>G	ENSP00000493098.1:n.781-35C>G
ENST00000641446.1:c.781-35C>G	ENSP00000493262.1:n.781-35C>G
ENST00000641721.1:n.644-35C>G
ENST00000641747.1:c.*293-35C>G	ENSP00000493116.1:n.*293-35C>G
ENST00000641759.1:n.916-35C>G
ENST00000641805.1:n.1064-35C>G
ENST00000641820.1:c.46-35C>G	ENSP00000492937.1:n.46-35C>G
ENST00000376583.7:c.904-35C>G	ENSP00000365767.3:n.904-35C>G
ENST00000376585.5:c.904-35C>G	ENSP00000365770.1:n.904-35C>G
ENST00000376590.7:c.781-35C>G	ENSP00000365775.3:n.781-35C>G
ENST00000376592.5:c.781-35C>G	ENSP00000365777.1:n.781-35C>G
NM_005957.4:c.781-35C>G , LRG_726t1:c.781-35C>G	NP_005948.3:n.781-35C>G
XM_005263458.2:c.904-35C>G	XP_005263515.1:n.904-35C>G
XM_005263460.3:c.781-35C>G	XP_005263517.1:n.781-35C>G
XM_005263461.3:c.781-35C>G	XP_005263518.1:n.781-35C>G
XM_005263462.3:c.781-35C>G	XP_005263519.1:n.781-35C>G
XM_005263463.2:c.535-35C>G	XP_005263520.1:n.535-35C>G
XM_011541495.1:c.901-35C>G	XP_011539797.1:n.901-35C>G
XM_011541496.1:c.904-35C>G	XP_011539798.1:n.904-35C>G
NM_001330358.1:c.904-35C>G	NP_001317287.1:n.904-35C>G
XM_005263460.5:c.781-35C>G	XP_005263517.1:n.781-35C>G
XM_005263462.4:c.781-35C>G	XP_005263519.1:n.781-35C>G
XM_005263463.4:c.535-35C>G	XP_005263520.1:n.535-35C>G
XM_011541495.3:c.901-35C>G	XP_011539797.1:n.901-35C>G
XM_011541496.3:c.904-35C>G	XP_011539798.1:n.904-35C>G
XM_017001328.2:c.904-35C>G	XP_016856817.1:n.904-35C>G
XM_024447198.1:c.535-35C>G	XP_024302966.1:n.535-35C>G
XR_002956640.1:n.1648-35C>G
NM_005957.5:c.781-35C>G MANE Select	NP_005948.3:n.781-35C>G
NM_001330358.2:c.904-35C>G	NP_001317287.1:n.904-35C>G