Canonical Allele Identifier: CA521192364

Gene: MTHFR

Linked Data

• dbSNP Id: rs1334261916
• gnomAD v2: 1-11850363-A-AGG
• gnomAD v3: 1-11790306-A-AGG
• gnomAD v4: 1-11790306-A-AGG
• MyVariant Identifiers: chr1:g.11850363_11850364insGG (hg19) ; chr1:g.11790306_11790307insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790307_11790308insGG , CM000663.2:g.11790307_11790308insGG	GRCh38
NC_000001.10:g.11850364_11850365insGG , CM000663.1:g.11850364_11850365insGG	GRCh37
NC_000001.9:g.11772951_11772952insGG	NCBI36
NG_013351.1:g.20797_20798insCC , LRG_726:g.20797_20798insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.*373_*374insCC	ENSP00000365770.1:n.*373_*374insCC
ENST00000376590.9:c.*373_*374insCC MANE Select	ENSP00000365775.3:n.*373_*374insCC
ENST00000376592.6:c.*373_*374insCC	ENSP00000365777.1:n.*373_*374insCC
ENST00000423400.7:c.*373_*374insCC	ENSP00000398908.3:n.*373_*374insCC
ENST00000641446.1:c.*803_*804insCC	ENSP00000493262.1:n.*803_*804insCC
ENST00000641747.1:c.*1856_*1857insCC	ENSP00000493116.1:n.*1856_*1857insCC
ENST00000641805.1:n.2679_2680insCC
ENST00000376583.7:c.2467_2468insCC	ENSP00000365767.3:n.2467_2468insCC
ENST00000376585.5:c.*373_*374insCC	ENSP00000365770.1:n.*373_*374insCC
ENST00000376590.7:c.*373_*374insCC	ENSP00000365775.3:n.*373_*374insCC
ENST00000376592.5:c.*373_*374insCC	ENSP00000365777.1:n.*373_*374insCC
NM_005957.4:c.*373_*374insCC , LRG_726t1:c.*373_*374insCC	NP_005948.3:n.*373_*374insCC
XM_005263458.2:c.*373_*374insCC	XP_005263515.1:n.*373_*374insCC
XM_005263460.3:c.*373_*374insCC	XP_005263517.1:n.*373_*374insCC
XM_005263461.3:c.*373_*374insCC	XP_005263518.1:n.*373_*374insCC
XM_005263462.3:c.*373_*374insCC	XP_005263519.1:n.*373_*374insCC
XM_005263463.2:c.*373_*374insCC	XP_005263520.1:n.*373_*374insCC
XM_011541495.1:c.*373_*374insCC	XP_011539797.1:n.*373_*374insCC
XM_011541496.1:c.*233_*234insCC	XP_011539798.1:n.*233_*234insCC
NM_001330358.1:c.*373_*374insCC	NP_001317287.1:n.*373_*374insCC
XM_005263460.5:c.*373_*374insCC	XP_005263517.1:n.*373_*374insCC
XM_005263462.4:c.*373_*374insCC	XP_005263519.1:n.*373_*374insCC
XM_005263463.4:c.*373_*374insCC	XP_005263520.1:n.*373_*374insCC
XM_011541495.3:c.*373_*374insCC	XP_011539797.1:n.*373_*374insCC
XM_011541496.3:c.*233_*234insCC	XP_011539798.1:n.*233_*234insCC
XM_024447198.1:c.*373_*374insCC	XP_024302966.1:n.*373_*374insCC
NM_005957.5:c.*373_*374insCC MANE Select	NP_005948.3:n.*373_*374insCC
NM_001330358.2:c.*373_*374insCC	NP_001317287.1:n.*373_*374insCC