Canonical Allele Identifier: CA2592813604

Gene: MTHFR

Linked Data

• dbSNP Id: rs2100491371
• gnomAD v3: 1-11790430-G-GC
• gnomAD v4: 1-11790430-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790431dup , CM000663.2:g.11790431dup	GRCh38
NC_000001.10:g.11850488dup , CM000663.1:g.11850488dup	GRCh37
NC_000001.9:g.11773075dup	NCBI36
NG_013351.1:g.20673dup , LRG_726:g.20673dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.*249dup	ENSP00000365770.1:n.*249dup
ENST00000376590.9:c.*249dup MANE Select	ENSP00000365775.3:n.*249dup
ENST00000376592.6:c.*249dup	ENSP00000365777.1:n.*249dup
ENST00000423400.7:c.*249dup	ENSP00000398908.3:n.*249dup
ENST00000641407.1:c.*109dup	ENSP00000493098.1:n.*109dup
ENST00000641446.1:c.*679dup	ENSP00000493262.1:n.*679dup
ENST00000641747.1:c.*1732dup	ENSP00000493116.1:n.*1732dup
ENST00000641805.1:n.2555dup
ENST00000376583.7:c.2343dup	ENSP00000365767.3:n.2343dup
ENST00000376585.5:c.*249dup	ENSP00000365770.1:n.*249dup
ENST00000376590.7:c.*249dup	ENSP00000365775.3:n.*249dup
ENST00000376592.5:c.*249dup	ENSP00000365777.1:n.*249dup
NM_005957.4:c.*249dup , LRG_726t1:c.*249dup	NP_005948.3:n.*249dup
XM_005263458.2:c.*249dup	XP_005263515.1:n.*249dup
XM_005263460.3:c.*249dup	XP_005263517.1:n.*249dup
XM_005263461.3:c.*249dup	XP_005263518.1:n.*249dup
XM_005263462.3:c.*249dup	XP_005263519.1:n.*249dup
XM_005263463.2:c.*249dup	XP_005263520.1:n.*249dup
XM_011541495.1:c.*249dup	XP_011539797.1:n.*249dup
XM_011541496.1:c.*109dup	XP_011539798.1:n.*109dup
NM_001330358.1:c.*249dup	NP_001317287.1:n.*249dup
XM_005263460.5:c.*249dup	XP_005263517.1:n.*249dup
XM_005263462.4:c.*249dup	XP_005263519.1:n.*249dup
XM_005263463.4:c.*249dup	XP_005263520.1:n.*249dup
XM_011541495.3:c.*249dup	XP_011539797.1:n.*249dup
XM_011541496.3:c.*109dup	XP_011539798.1:n.*109dup
XM_024447198.1:c.*249dup	XP_024302966.1:n.*249dup
NM_005957.5:c.*249dup MANE Select	NP_005948.3:n.*249dup
NM_001330358.2:c.*249dup	NP_001317287.1:n.*249dup