Canonical Allele Identifier: CA1153790053

Gene: MTHFR

Linked Data

• dbSNP Id: rs1644050056
• gnomAD v4: 1-11790309-G-GTAAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790311_11790315dup , CM000663.2:g.11790311_11790315dup	GRCh38
NC_000001.10:g.11850368_11850372dup , CM000663.1:g.11850368_11850372dup	GRCh37
NC_000001.9:g.11772955_11772959dup	NCBI36
NG_013351.1:g.20790_20794dup , LRG_726:g.20790_20794dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*366_*370dup	ENSP00000365770.1:n.*366_*370dup
ENST00000376590.9:c.*366_*370dup MANE Select	ENSP00000365775.3:n.*366_*370dup
ENST00000376592.6:c.*366_*370dup	ENSP00000365777.1:n.*366_*370dup
ENST00000423400.7:c.*366_*370dup	ENSP00000398908.3:n.*366_*370dup
ENST00000641446.1:c.*796_*800dup	ENSP00000493262.1:n.*796_*800dup
ENST00000641747.1:c.*1849_*1853dup	ENSP00000493116.1:n.*1849_*1853dup
ENST00000641805.1:n.2672_2676dup
ENST00000376583.7:c.2460_2464dup	ENSP00000365767.3:n.2460_2464dup
ENST00000376585.5:c.*366_*370dup	ENSP00000365770.1:n.*366_*370dup
ENST00000376590.7:c.*366_*370dup	ENSP00000365775.3:n.*366_*370dup
ENST00000376592.5:c.*366_*370dup	ENSP00000365777.1:n.*366_*370dup
NM_005957.4:c.*366_*370dup , LRG_726t1:c.*366_*370dup	NP_005948.3:n.*366_*370dup
XM_005263458.2:c.*366_*370dup	XP_005263515.1:n.*366_*370dup
XM_005263460.3:c.*366_*370dup	XP_005263517.1:n.*366_*370dup
XM_005263461.3:c.*366_*370dup	XP_005263518.1:n.*366_*370dup
XM_005263462.3:c.*366_*370dup	XP_005263519.1:n.*366_*370dup
XM_005263463.2:c.*366_*370dup	XP_005263520.1:n.*366_*370dup
XM_011541495.1:c.*366_*370dup	XP_011539797.1:n.*366_*370dup
XM_011541496.1:c.*226_*230dup	XP_011539798.1:n.*226_*230dup
NM_001330358.1:c.*366_*370dup	NP_001317287.1:n.*366_*370dup
XM_005263460.5:c.*366_*370dup	XP_005263517.1:n.*366_*370dup
XM_005263462.4:c.*366_*370dup	XP_005263519.1:n.*366_*370dup
XM_005263463.4:c.*366_*370dup	XP_005263520.1:n.*366_*370dup
XM_011541495.3:c.*366_*370dup	XP_011539797.1:n.*366_*370dup
XM_011541496.3:c.*226_*230dup	XP_011539798.1:n.*226_*230dup
XM_024447198.1:c.*366_*370dup	XP_024302966.1:n.*366_*370dup
NM_005957.5:c.*366_*370dup MANE Select	NP_005948.3:n.*366_*370dup
NM_001330358.2:c.*366_*370dup	NP_001317287.1:n.*366_*370dup