Canonical Allele Identifier: CA2643299394

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11790311-AAGTTCACTGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790315_11790325del , CM000663.2:g.11790315_11790325del	GRCh38
NC_000001.10:g.11850372_11850382del , CM000663.1:g.11850372_11850382del	GRCh37
NC_000001.9:g.11772959_11772969del	NCBI36
NG_013351.1:g.20782_20792del , LRG_726:g.20782_20792del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*358_*368del	ENSP00000365770.1:n.*358_*368del
ENST00000376590.9:c.*358_*368del MANE Select	ENSP00000365775.3:n.*358_*368del
ENST00000376592.6:c.*358_*368del	ENSP00000365777.1:n.*358_*368del
ENST00000423400.7:c.*358_*368del	ENSP00000398908.3:n.*358_*368del
ENST00000641446.1:c.*788_*798del	ENSP00000493262.1:n.*788_*798del
ENST00000641747.1:c.*1841_*1851del	ENSP00000493116.1:n.*1841_*1851del
ENST00000641805.1:n.2664_2674del
ENST00000376583.7:c.2452_2462del	ENSP00000365767.3:n.2452_2462del
ENST00000376585.5:c.*358_*368del	ENSP00000365770.1:n.*358_*368del
ENST00000376590.7:c.*358_*368del	ENSP00000365775.3:n.*358_*368del
ENST00000376592.5:c.*358_*368del	ENSP00000365777.1:n.*358_*368del
NM_005957.4:c.*358_*368del , LRG_726t1:c.*358_*368del	NP_005948.3:n.*358_*368del
XM_005263458.2:c.*358_*368del	XP_005263515.1:n.*358_*368del
XM_005263460.3:c.*358_*368del	XP_005263517.1:n.*358_*368del
XM_005263461.3:c.*358_*368del	XP_005263518.1:n.*358_*368del
XM_005263462.3:c.*358_*368del	XP_005263519.1:n.*358_*368del
XM_005263463.2:c.*358_*368del	XP_005263520.1:n.*358_*368del
XM_011541495.1:c.*358_*368del	XP_011539797.1:n.*358_*368del
XM_011541496.1:c.*218_*228del	XP_011539798.1:n.*218_*228del
NM_001330358.1:c.*358_*368del	NP_001317287.1:n.*358_*368del
XM_005263460.5:c.*358_*368del	XP_005263517.1:n.*358_*368del
XM_005263462.4:c.*358_*368del	XP_005263519.1:n.*358_*368del
XM_005263463.4:c.*358_*368del	XP_005263520.1:n.*358_*368del
XM_011541495.3:c.*358_*368del	XP_011539797.1:n.*358_*368del
XM_011541496.3:c.*218_*228del	XP_011539798.1:n.*218_*228del
XM_024447198.1:c.*358_*368del	XP_024302966.1:n.*358_*368del
NM_005957.5:c.*358_*368del MANE Select	NP_005948.3:n.*358_*368del
NM_001330358.2:c.*358_*368del	NP_001317287.1:n.*358_*368del