Canonical Allele Identifier: CA521455240

Gene: MTHFR

Linked Data

• dbSNP Id: rs1173158120
• gnomAD v2: 1-11850529-CAG-C
• gnomAD v3: 1-11790472-CAG-C
• gnomAD v4: 1-11790472-CAG-C
• MyVariant Identifiers: chr1:g.11850530_11850531del (hg19) ; chr1:g.11790473_11790474del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790477_11790478del , CM000663.2:g.11790477_11790478del	GRCh38
NC_000001.10:g.11850534_11850535del , CM000663.1:g.11850534_11850535del	GRCh37
NC_000001.9:g.11773121_11773122del	NCBI36
NG_013351.1:g.20630_20631del , LRG_726:g.20630_20631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.*206_*207del	ENSP00000365770.1:n.*206_*207del
ENST00000376590.9:c.*206_*207del MANE Select	ENSP00000365775.3:n.*206_*207del
ENST00000376592.6:c.*206_*207del	ENSP00000365777.1:n.*206_*207del
ENST00000423400.7:c.*206_*207del	ENSP00000398908.3:n.*206_*207del
ENST00000641407.1:c.*66_*67del	ENSP00000493098.1:n.*66_*67del
ENST00000641446.1:c.*636_*637del	ENSP00000493262.1:n.*636_*637del
ENST00000641747.1:c.*1689_*1690del	ENSP00000493116.1:n.*1689_*1690del
ENST00000641805.1:n.2512_2513del
ENST00000376583.7:c.2300_2301del	ENSP00000365767.3:n.2300_2301del
ENST00000376585.5:c.*206_*207del	ENSP00000365770.1:n.*206_*207del
ENST00000376590.7:c.*206_*207del	ENSP00000365775.3:n.*206_*207del
ENST00000376592.5:c.*206_*207del	ENSP00000365777.1:n.*206_*207del
NM_005957.4:c.*206_*207del , LRG_726t1:c.*206_*207del	NP_005948.3:n.*206_*207del
XM_005263458.2:c.*206_*207del	XP_005263515.1:n.*206_*207del
XM_005263460.3:c.*206_*207del	XP_005263517.1:n.*206_*207del
XM_005263461.3:c.*206_*207del	XP_005263518.1:n.*206_*207del
XM_005263462.3:c.*206_*207del	XP_005263519.1:n.*206_*207del
XM_005263463.2:c.*206_*207del	XP_005263520.1:n.*206_*207del
XM_011541495.1:c.*206_*207del	XP_011539797.1:n.*206_*207del
XM_011541496.1:c.*66_*67del	XP_011539798.1:n.*66_*67del
NM_001330358.1:c.*206_*207del	NP_001317287.1:n.*206_*207del
XM_005263460.5:c.*206_*207del	XP_005263517.1:n.*206_*207del
XM_005263462.4:c.*206_*207del	XP_005263519.1:n.*206_*207del
XM_005263463.4:c.*206_*207del	XP_005263520.1:n.*206_*207del
XM_011541495.3:c.*206_*207del	XP_011539797.1:n.*206_*207del
XM_011541496.3:c.*66_*67del	XP_011539798.1:n.*66_*67del
XM_024447198.1:c.*206_*207del	XP_024302966.1:n.*206_*207del
XR_002956640.1:n.3096_3097del
NM_005957.5:c.*206_*207del MANE Select	NP_005948.3:n.*206_*207del
NM_001330358.2:c.*206_*207del	NP_001317287.1:n.*206_*207del