Canonical Allele Identifier: CA2643299924

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11790469-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790469G>A , CM000663.2:g.11790469G>A	GRCh38
NC_000001.10:g.11850526G>A , CM000663.1:g.11850526G>A	GRCh37
NC_000001.9:g.11773113G>A	NCBI36
NG_013351.1:g.20635C>T , LRG_726:g.20635C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.*211C>T	ENSP00000365770.1:n.*211C>T
ENST00000376590.9:c.*211C>T MANE Select	ENSP00000365775.3:n.*211C>T
ENST00000376592.6:c.*211C>T	ENSP00000365777.1:n.*211C>T
ENST00000423400.7:c.*211C>T	ENSP00000398908.3:n.*211C>T
ENST00000641407.1:c.*71C>T	ENSP00000493098.1:n.*71C>T
ENST00000641446.1:c.*641C>T	ENSP00000493262.1:n.*641C>T
ENST00000641747.1:c.*1694C>T	ENSP00000493116.1:n.*1694C>T
ENST00000641805.1:n.2517C>T
ENST00000376583.7:c.2305C>T	ENSP00000365767.3:n.2305C>T
ENST00000376585.5:c.*211C>T	ENSP00000365770.1:n.*211C>T
ENST00000376590.7:c.*211C>T	ENSP00000365775.3:n.*211C>T
ENST00000376592.5:c.*211C>T	ENSP00000365777.1:n.*211C>T
NM_005957.4:c.*211C>T , LRG_726t1:c.*211C>T	NP_005948.3:n.*211C>T
XM_005263458.2:c.*211C>T	XP_005263515.1:n.*211C>T
XM_005263460.3:c.*211C>T	XP_005263517.1:n.*211C>T
XM_005263461.3:c.*211C>T	XP_005263518.1:n.*211C>T
XM_005263462.3:c.*211C>T	XP_005263519.1:n.*211C>T
XM_005263463.2:c.*211C>T	XP_005263520.1:n.*211C>T
XM_011541495.1:c.*211C>T	XP_011539797.1:n.*211C>T
XM_011541496.1:c.*71C>T	XP_011539798.1:n.*71C>T
NM_001330358.1:c.*211C>T	NP_001317287.1:n.*211C>T
XM_005263460.5:c.*211C>T	XP_005263517.1:n.*211C>T
XM_005263462.4:c.*211C>T	XP_005263519.1:n.*211C>T
XM_005263463.4:c.*211C>T	XP_005263520.1:n.*211C>T
XM_011541495.3:c.*211C>T	XP_011539797.1:n.*211C>T
XM_011541496.3:c.*71C>T	XP_011539798.1:n.*71C>T
XM_024447198.1:c.*211C>T	XP_024302966.1:n.*211C>T
XR_002956640.1:n.3101C>T
NM_005957.5:c.*211C>T MANE Select	NP_005948.3:n.*211C>T
NM_001330358.2:c.*211C>T	NP_001317287.1:n.*211C>T