Canonical Allele Identifier: CA913187189

Gene: MTHFR

Linked Data

• dbSNP Id: rs766092654
• gnomAD v4: 1-11790648-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790648G>C , CM000663.2:g.11790648G>C	GRCh38
NC_000001.10:g.11850705G>C , CM000663.1:g.11850705G>C	GRCh37
NC_000001.9:g.11773292G>C	NCBI36
NG_013351.1:g.20456C>G , LRG_726:g.20456C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*32C>G	ENSP00000365770.1:n.*32C>G
ENST00000376590.9:c.*32C>G MANE Select	ENSP00000365775.3:n.*32C>G
ENST00000376592.6:c.*32C>G	ENSP00000365777.1:n.*32C>G
ENST00000423400.7:c.*32C>G	ENSP00000398908.3:n.*32C>G
ENST00000641407.1:c.1821C>G	ENSP00000493098.1:p.His607Gln
ENST00000641446.1:c.*462C>G	ENSP00000493262.1:n.*462C>G
ENST00000641747.1:c.*1515C>G	ENSP00000493116.1:n.*1515C>G
ENST00000641759.1:n.2372C>G
ENST00000641805.1:n.2338C>G
ENST00000641820.1:c.*32C>G	ENSP00000492937.1:n.*32C>G
ENST00000376583.7:c.2126C>G	ENSP00000365767.3:n.2126C>G
ENST00000376585.5:c.*32C>G	ENSP00000365770.1:n.*32C>G
ENST00000376590.7:c.*32C>G	ENSP00000365775.3:n.*32C>G
ENST00000376592.5:c.*32C>G	ENSP00000365777.1:n.*32C>G
NM_005957.4:c.*32C>G , LRG_726t1:c.*32C>G	NP_005948.3:n.*32C>G
XM_005263458.2:c.*32C>G	XP_005263515.1:n.*32C>G
XM_005263460.3:c.*32C>G	XP_005263517.1:n.*32C>G
XM_005263461.3:c.*32C>G	XP_005263518.1:n.*32C>G
XM_005263462.3:c.*32C>G	XP_005263519.1:n.*32C>G
XM_005263463.2:c.*32C>G	XP_005263520.1:n.*32C>G
XM_011541495.1:c.*32C>G	XP_011539797.1:n.*32C>G
XM_011541496.1:c.1944C>G	XP_011539798.1:p.His648Gln
NM_001330358.1:c.*32C>G	NP_001317287.1:n.*32C>G
XM_005263460.5:c.*32C>G	XP_005263517.1:n.*32C>G
XM_005263462.4:c.*32C>G	XP_005263519.1:n.*32C>G
XM_005263463.4:c.*32C>G	XP_005263520.1:n.*32C>G
XM_011541495.3:c.*32C>G	XP_011539797.1:n.*32C>G
XM_011541496.3:c.1944C>G	XP_011539798.1:p.His648Gln
XM_017001328.2:c.*32C>G	XP_016856817.1:n.*32C>G
XM_024447198.1:c.*32C>G	XP_024302966.1:n.*32C>G
XR_002956640.1:n.2922C>G
NM_005957.5:c.*32C>G MANE Select	NP_005948.3:n.*32C>G
NM_001330358.2:c.*32C>G	NP_001317287.1:n.*32C>G