Canonical Allele Identifier: CA2562710389
Gene: MTHFR HGNC NCBI

Linked Data

gnomAD v4: 1-11790356-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11790356C>A , CM000663.2:g.11790356C>A GRCh38
NC_000001.10:g.11850413C>A , CM000663.1:g.11850413C>A GRCh37
NC_000001.9:g.11773000C>A NCBI36
NG_013351.1:g.20748G>T , LRG_726:g.20748G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376585.6:c.*324G>T ENSP00000365770.1:n.*324G>T
ENST00000376590.9:c.*324G>T MANE Select ENSP00000365775.3:n.*324G>T
ENST00000376592.6:c.*324G>T ENSP00000365777.1:n.*324G>T
ENST00000423400.7:c.*324G>T ENSP00000398908.3:n.*324G>T
ENST00000641407.1:c.*184G>T ENSP00000493098.1:n.*184G>T
ENST00000641446.1:c.*754G>T ENSP00000493262.1:n.*754G>T
ENST00000641747.1:c.*1807G>T ENSP00000493116.1:n.*1807G>T
ENST00000641805.1:n.2630G>T
ENST00000376583.7:c.2418G>T ENSP00000365767.3:n.2418G>T
ENST00000376585.5:c.*324G>T ENSP00000365770.1:n.*324G>T
ENST00000376590.7:c.*324G>T ENSP00000365775.3:n.*324G>T
ENST00000376592.5:c.*324G>T ENSP00000365777.1:n.*324G>T
NM_005957.4:c.*324G>T , LRG_726t1:c.*324G>T NP_005948.3:n.*324G>T
XM_005263458.2:c.*324G>T XP_005263515.1:n.*324G>T
XM_005263460.3:c.*324G>T XP_005263517.1:n.*324G>T
XM_005263461.3:c.*324G>T XP_005263518.1:n.*324G>T
XM_005263462.3:c.*324G>T XP_005263519.1:n.*324G>T
XM_005263463.2:c.*324G>T XP_005263520.1:n.*324G>T
XM_011541495.1:c.*324G>T XP_011539797.1:n.*324G>T
XM_011541496.1:c.*184G>T XP_011539798.1:n.*184G>T
NM_001330358.1:c.*324G>T NP_001317287.1:n.*324G>T
XM_005263460.5:c.*324G>T XP_005263517.1:n.*324G>T
XM_005263462.4:c.*324G>T XP_005263519.1:n.*324G>T
XM_005263463.4:c.*324G>T XP_005263520.1:n.*324G>T
XM_011541495.3:c.*324G>T XP_011539797.1:n.*324G>T
XM_011541496.3:c.*184G>T XP_011539798.1:n.*184G>T
XM_024447198.1:c.*324G>T XP_024302966.1:n.*324G>T
NM_005957.5:c.*324G>T MANE Select NP_005948.3:n.*324G>T
NM_001330358.2:c.*324G>T NP_001317287.1:n.*324G>T