Canonical Allele Identifier: CA17998738

Gene: MTHFR

Linked Data

• dbSNP Id: rs745817977
• gnomAD v4: 1-11790370-G-A
• MyVariant Identifiers: chr1:g.11850427G>A (hg19) ; chr1:g.11790370G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790370G>A , CM000663.2:g.11790370G>A	GRCh38
NC_000001.10:g.11850427G>A , CM000663.1:g.11850427G>A	GRCh37
NC_000001.9:g.11773014G>A	NCBI36
NG_013351.1:g.20734C>T , LRG_726:g.20734C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*310C>T	ENSP00000365770.1:n.*310C>T
ENST00000376590.9:c.*310C>T MANE Select	ENSP00000365775.3:n.*310C>T
ENST00000376592.6:c.*310C>T	ENSP00000365777.1:n.*310C>T
ENST00000423400.7:c.*310C>T	ENSP00000398908.3:n.*310C>T
ENST00000641407.1:c.*170C>T	ENSP00000493098.1:n.*170C>T
ENST00000641446.1:c.*740C>T	ENSP00000493262.1:n.*740C>T
ENST00000641747.1:c.*1793C>T	ENSP00000493116.1:n.*1793C>T
ENST00000641805.1:n.2616C>T
ENST00000376583.7:c.2404C>T	ENSP00000365767.3:n.2404C>T
ENST00000376585.5:c.*310C>T	ENSP00000365770.1:n.*310C>T
ENST00000376590.7:c.*310C>T	ENSP00000365775.3:n.*310C>T
ENST00000376592.5:c.*310C>T	ENSP00000365777.1:n.*310C>T
NM_005957.4:c.*310C>T , LRG_726t1:c.*310C>T	NP_005948.3:n.*310C>T
XM_005263458.2:c.*310C>T	XP_005263515.1:n.*310C>T
XM_005263460.3:c.*310C>T	XP_005263517.1:n.*310C>T
XM_005263461.3:c.*310C>T	XP_005263518.1:n.*310C>T
XM_005263462.3:c.*310C>T	XP_005263519.1:n.*310C>T
XM_005263463.2:c.*310C>T	XP_005263520.1:n.*310C>T
XM_011541495.1:c.*310C>T	XP_011539797.1:n.*310C>T
XM_011541496.1:c.*170C>T	XP_011539798.1:n.*170C>T
NM_001330358.1:c.*310C>T	NP_001317287.1:n.*310C>T
XM_005263460.5:c.*310C>T	XP_005263517.1:n.*310C>T
XM_005263462.4:c.*310C>T	XP_005263519.1:n.*310C>T
XM_005263463.4:c.*310C>T	XP_005263520.1:n.*310C>T
XM_011541495.3:c.*310C>T	XP_011539797.1:n.*310C>T
XM_011541496.3:c.*170C>T	XP_011539798.1:n.*170C>T
XM_024447198.1:c.*310C>T	XP_024302966.1:n.*310C>T
NM_005957.5:c.*310C>T MANE Select	NP_005948.3:n.*310C>T
NM_001330358.2:c.*310C>T	NP_001317287.1:n.*310C>T