Canonical Allele Identifier: CA2643299150

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11790291-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790291A>C , CM000663.2:g.11790291A>C	GRCh38
NC_000001.10:g.11850348A>C , CM000663.1:g.11850348A>C	GRCh37
NC_000001.9:g.11772935A>C	NCBI36
NG_013351.1:g.20813T>G , LRG_726:g.20813T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*389T>G	ENSP00000365770.1:n.*389T>G
ENST00000376590.9:c.*389T>G MANE Select	ENSP00000365775.3:n.*389T>G
ENST00000376592.6:c.*389T>G	ENSP00000365777.1:n.*389T>G
ENST00000423400.7:c.*389T>G	ENSP00000398908.3:n.*389T>G
ENST00000641446.1:c.*819T>G	ENSP00000493262.1:n.*819T>G
ENST00000641747.1:c.*1872T>G	ENSP00000493116.1:n.*1872T>G
ENST00000641805.1:n.2695T>G
ENST00000376583.7:c.2483T>G	ENSP00000365767.3:n.2483T>G
ENST00000376585.5:c.*389T>G	ENSP00000365770.1:n.*389T>G
ENST00000376590.7:c.*389T>G	ENSP00000365775.3:n.*389T>G
ENST00000376592.5:c.*389T>G	ENSP00000365777.1:n.*389T>G
NM_005957.4:c.*389T>G , LRG_726t1:c.*389T>G	NP_005948.3:n.*389T>G
XM_005263458.2:c.*389T>G	XP_005263515.1:n.*389T>G
XM_005263460.3:c.*389T>G	XP_005263517.1:n.*389T>G
XM_005263461.3:c.*389T>G	XP_005263518.1:n.*389T>G
XM_005263462.3:c.*389T>G	XP_005263519.1:n.*389T>G
XM_005263463.2:c.*389T>G	XP_005263520.1:n.*389T>G
XM_011541495.1:c.*389T>G	XP_011539797.1:n.*389T>G
XM_011541496.1:c.*249T>G	XP_011539798.1:n.*249T>G
NM_001330358.1:c.*389T>G	NP_001317287.1:n.*389T>G
XM_005263460.5:c.*389T>G	XP_005263517.1:n.*389T>G
XM_005263462.4:c.*389T>G	XP_005263519.1:n.*389T>G
XM_005263463.4:c.*389T>G	XP_005263520.1:n.*389T>G
XM_011541495.3:c.*389T>G	XP_011539797.1:n.*389T>G
XM_011541496.3:c.*249T>G	XP_011539798.1:n.*249T>G
XM_024447198.1:c.*389T>G	XP_024302966.1:n.*389T>G
NM_005957.5:c.*389T>G MANE Select	NP_005948.3:n.*389T>G
NM_001330358.2:c.*389T>G	NP_001317287.1:n.*389T>G