Canonical Allele Identifier: CA998624430

Gene: MTHFR

Linked Data

• dbSNP Id: rs1258609522
• gnomAD v3: 1-11802634-G-T
• gnomAD v4: 1-11802634-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11802634G>T , CM000663.2:g.11802634G>T	GRCh38
NC_000001.10:g.11862691G>T , CM000663.1:g.11862691G>T	GRCh37
NC_000001.9:g.11785278G>T	NCBI36
NG_008766.1:g.1485G>T
NG_013351.1:g.8470C>A , LRG_726:g.8470C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.236+247C>A	ENSP00000365669.3:n.236+247C>A
ENST00000376585.6:c.359+247C>A	ENSP00000365770.1:n.359+247C>A
ENST00000376590.9:c.236+247C>A MANE Select	ENSP00000365775.3:n.236+247C>A
ENST00000376592.6:c.236+247C>A	ENSP00000365777.1:n.236+247C>A
ENST00000423400.7:c.356+247C>A	ENSP00000398908.3:n.356+247C>A
ENST00000431243.6:n.1017+247C>A
ENST00000641407.1:c.236+247C>A	ENSP00000493098.1:n.236+247C>A
ENST00000641437.1:n.368+247C>A
ENST00000641446.1:c.236+247C>A	ENSP00000493262.1:n.236+247C>A
ENST00000641721.1:n.293+247C>A
ENST00000641747.1:c.236+247C>A	ENSP00000493116.1:n.236+247C>A
ENST00000641759.1:n.371+247C>A
ENST00000641805.1:n.519+247C>A
ENST00000641909.1:n.646+247C>A
ENST00000642002.1:n.465+247C>A
ENST00000376583.7:c.359+247C>A	ENSP00000365767.3:n.359+247C>A
ENST00000376585.5:c.359+247C>A	ENSP00000365770.1:n.359+247C>A
ENST00000376590.7:c.236+247C>A	ENSP00000365775.3:n.236+247C>A
ENST00000376592.5:c.236+247C>A	ENSP00000365777.1:n.236+247C>A
ENST00000418034.1:c.236+247C>A	ENSP00000405082.1:n.236+247C>A
NM_005957.4:c.236+247C>A , LRG_726t1:c.236+247C>A	NP_005948.3:n.236+247C>A
XM_005263458.2:c.359+247C>A	XP_005263515.1:n.359+247C>A
XM_005263460.3:c.236+247C>A	XP_005263517.1:n.236+247C>A
XM_005263461.3:c.236+247C>A	XP_005263518.1:n.236+247C>A
XM_005263462.3:c.236+247C>A	XP_005263519.1:n.236+247C>A
XM_005263463.2:c.-28+247C>A	XP_005263520.1:n.-28+247C>A
XM_011541495.1:c.356+247C>A	XP_011539797.1:n.356+247C>A
XM_011541496.1:c.359+247C>A	XP_011539798.1:n.359+247C>A
NM_001330358.1:c.359+247C>A	NP_001317287.1:n.359+247C>A
XM_005263460.5:c.236+247C>A	XP_005263517.1:n.236+247C>A
XM_005263462.4:c.236+247C>A	XP_005263519.1:n.236+247C>A
XM_005263463.4:c.-28+247C>A	XP_005263520.1:n.-28+247C>A
XM_011541495.3:c.356+247C>A	XP_011539797.1:n.356+247C>A
XM_011541496.3:c.359+247C>A	XP_011539798.1:n.359+247C>A
XM_017001328.2:c.359+247C>A	XP_016856817.1:n.359+247C>A
XM_024447198.1:c.-28+247C>A	XP_024302966.1:n.-28+247C>A
XR_002956640.1:n.1103+247C>A
NM_005957.5:c.236+247C>A MANE Select	NP_005948.3:n.236+247C>A
NM_001330358.2:c.359+247C>A	NP_001317287.1:n.359+247C>A