Canonical Allele Identifier: CA595760

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 1108193
• ClinVar RCV Id: RCV001433570
• dbSNP Id: rs748686763
• ExAC: 1:11863156 T / C
• gnomAD v2: 1-11863156-T-C
• gnomAD v4: 1-11803099-T-C
• MyVariant Identifiers: chr1:g.11863156T>C (hg19) ; chr1:g.11803099T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11803099T>C , CM000663.2:g.11803099T>C	GRCh38
NC_000001.10:g.11863156T>C , CM000663.1:g.11863156T>C	GRCh37
NC_000001.9:g.11785743T>C	NCBI36
NG_008766.1:g.1950T>C
NG_013351.1:g.8005A>G , LRG_726:g.8005A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.18A>G	ENSP00000365669.3:p.Arg6=
ENST00000376585.6:c.141A>G	ENSP00000365770.1:p.Arg47=
ENST00000376590.9:c.18A>G MANE Select	ENSP00000365775.3:p.Arg6=
ENST00000376592.6:c.18A>G	ENSP00000365777.1:p.Arg6=
ENST00000423400.7:c.138A>G	ENSP00000398908.3:p.Arg46=
ENST00000431243.6:n.799A>G
ENST00000641407.1:c.18A>G	ENSP00000493098.1:p.Arg6=
ENST00000641437.1:n.150A>G
ENST00000641446.1:c.18A>G	ENSP00000493262.1:p.Arg6=
ENST00000641721.1:n.75A>G
ENST00000641747.1:c.18A>G	ENSP00000493116.1:p.Arg6=
ENST00000641759.1:n.153A>G
ENST00000641805.1:n.301A>G
ENST00000641909.1:n.428A>G
ENST00000642002.1:n.247A>G
ENST00000376486.2:c.18A>G	ENSP00000365669.2:p.Arg6=
ENST00000376583.7:c.141A>G	ENSP00000365767.3:p.Arg47=
ENST00000376585.5:c.141A>G	ENSP00000365770.1:p.Arg47=
ENST00000376590.7:c.18A>G	ENSP00000365775.3:p.Arg6=
ENST00000376592.5:c.18A>G	ENSP00000365777.1:p.Arg6=
ENST00000413656.5:c.18A>G	ENSP00000408307.1:p.Arg6=
ENST00000418034.1:c.18A>G	ENSP00000405082.1:p.Arg6=
ENST00000423400.5:c.87A>G	ENSP00000398908.1:p.Arg29=
ENST00000431243.5:c.18A>G	ENSP00000400460.1:p.Arg6=
NM_005957.4:c.18A>G , LRG_726t1:c.18A>G	NP_005948.3:p.Arg6=
XM_005263458.2:c.141A>G	XP_005263515.1:p.Arg47=
XM_005263460.3:c.18A>G	XP_005263517.1:p.Arg6=
XM_005263461.3:c.18A>G	XP_005263518.1:p.Arg6=
XM_005263462.3:c.18A>G	XP_005263519.1:p.Arg6=
XM_005263463.2:c.-246A>G	XP_005263520.1:n.-246A>G
XM_011541495.1:c.138A>G	XP_011539797.1:p.Arg46=
XM_011541496.1:c.141A>G	XP_011539798.1:p.Arg47=
NM_001330358.1:c.141A>G	NP_001317287.1:p.Arg47=
XM_005263460.5:c.18A>G	XP_005263517.1:p.Arg6=
XM_005263462.4:c.18A>G	XP_005263519.1:p.Arg6=
XM_005263463.4:c.-246A>G	XP_005263520.1:n.-246A>G
XM_011541495.3:c.138A>G	XP_011539797.1:p.Arg46=
XM_011541496.3:c.141A>G	XP_011539798.1:p.Arg47=
XM_017001328.2:c.141A>G	XP_016856817.1:p.Arg47=
XM_024447198.1:c.-246A>G	XP_024302966.1:n.-246A>G
XR_002956640.1:n.885A>G
NM_005957.5:c.18A>G MANE Select	NP_005948.3:p.Arg6=
NM_001330358.2:c.141A>G	NP_001317287.1:p.Arg47=