Canonical Allele Identifier: CA2643299449

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11790321-G-GGAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790322_11790325dup , CM000663.2:g.11790322_11790325dup	GRCh38
NC_000001.10:g.11850379_11850382dup , CM000663.1:g.11850379_11850382dup	GRCh37
NC_000001.9:g.11772966_11772969dup	NCBI36
NG_013351.1:g.20779_20782dup , LRG_726:g.20779_20782dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*355_*358dup	ENSP00000365770.1:n.*355_*358dup
ENST00000376590.9:c.*355_*358dup MANE Select	ENSP00000365775.3:n.*355_*358dup
ENST00000376592.6:c.*355_*358dup	ENSP00000365777.1:n.*355_*358dup
ENST00000423400.7:c.*355_*358dup	ENSP00000398908.3:n.*355_*358dup
ENST00000641446.1:c.*785_*788dup	ENSP00000493262.1:n.*785_*788dup
ENST00000641747.1:c.*1838_*1841dup	ENSP00000493116.1:n.*1838_*1841dup
ENST00000641805.1:n.2661_2664dup
ENST00000376583.7:c.2449_2452dup	ENSP00000365767.3:n.2449_2452dup
ENST00000376585.5:c.*355_*358dup	ENSP00000365770.1:n.*355_*358dup
ENST00000376590.7:c.*355_*358dup	ENSP00000365775.3:n.*355_*358dup
ENST00000376592.5:c.*355_*358dup	ENSP00000365777.1:n.*355_*358dup
NM_005957.4:c.*355_*358dup , LRG_726t1:c.*355_*358dup	NP_005948.3:n.*355_*358dup
XM_005263458.2:c.*355_*358dup	XP_005263515.1:n.*355_*358dup
XM_005263460.3:c.*355_*358dup	XP_005263517.1:n.*355_*358dup
XM_005263461.3:c.*355_*358dup	XP_005263518.1:n.*355_*358dup
XM_005263462.3:c.*355_*358dup	XP_005263519.1:n.*355_*358dup
XM_005263463.2:c.*355_*358dup	XP_005263520.1:n.*355_*358dup
XM_011541495.1:c.*355_*358dup	XP_011539797.1:n.*355_*358dup
XM_011541496.1:c.*215_*218dup	XP_011539798.1:n.*215_*218dup
NM_001330358.1:c.*355_*358dup	NP_001317287.1:n.*355_*358dup
XM_005263460.5:c.*355_*358dup	XP_005263517.1:n.*355_*358dup
XM_005263462.4:c.*355_*358dup	XP_005263519.1:n.*355_*358dup
XM_005263463.4:c.*355_*358dup	XP_005263520.1:n.*355_*358dup
XM_011541495.3:c.*355_*358dup	XP_011539797.1:n.*355_*358dup
XM_011541496.3:c.*215_*218dup	XP_011539798.1:n.*215_*218dup
XM_024447198.1:c.*355_*358dup	XP_024302966.1:n.*355_*358dup
NM_005957.5:c.*355_*358dup MANE Select	NP_005948.3:n.*355_*358dup
NM_001330358.2:c.*355_*358dup	NP_001317287.1:n.*355_*358dup