Canonical Allele Identifier: CA595721

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 1580951
• ClinVar RCV Id: RCV002094945
• dbSNP Id: rs771782125
• ExAC: 1:11862940 T / C
• gnomAD v2: 1-11862940-T-C
• gnomAD v4: 1-11802883-T-C
• MyVariant Identifiers: chr1:g.11862940T>C (hg19) ; chr1:g.11802883T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11802883T>C , CM000663.2:g.11802883T>C	GRCh38
NC_000001.10:g.11862940T>C , CM000663.1:g.11862940T>C	GRCh37
NC_000001.9:g.11785527T>C	NCBI36
NG_008766.1:g.1734T>C
NG_013351.1:g.8221A>G , LRG_726:g.8221A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.234A>G	ENSP00000365669.3:p.Ser78=
ENST00000376585.6:c.357A>G	ENSP00000365770.1:p.Ser119=
ENST00000376590.9:c.234A>G MANE Select	ENSP00000365775.3:p.Ser78=
ENST00000376592.6:c.234A>G	ENSP00000365777.1:p.Ser78=
ENST00000423400.7:c.354A>G	ENSP00000398908.3:p.Ser118=
ENST00000431243.6:n.1015A>G
ENST00000641407.1:c.234A>G	ENSP00000493098.1:p.Ser78=
ENST00000641437.1:n.366A>G
ENST00000641446.1:c.234A>G	ENSP00000493262.1:p.Ser78=
ENST00000641721.1:n.291A>G
ENST00000641747.1:c.234A>G	ENSP00000493116.1:p.Ser78=
ENST00000641759.1:n.369A>G
ENST00000641805.1:n.517A>G
ENST00000641909.1:n.644A>G
ENST00000642002.1:n.463A>G
ENST00000376583.7:c.357A>G	ENSP00000365767.3:p.Ser119=
ENST00000376585.5:c.357A>G	ENSP00000365770.1:p.Ser119=
ENST00000376590.7:c.234A>G	ENSP00000365775.3:p.Ser78=
ENST00000376592.5:c.234A>G	ENSP00000365777.1:p.Ser78=
ENST00000418034.1:c.234A>G	ENSP00000405082.1:p.Ser78=
NM_005957.4:c.234A>G , LRG_726t1:c.234A>G	NP_005948.3:p.Ser78=
XM_005263458.2:c.357A>G	XP_005263515.1:p.Ser119=
XM_005263460.3:c.234A>G	XP_005263517.1:p.Ser78=
XM_005263461.3:c.234A>G	XP_005263518.1:p.Ser78=
XM_005263462.3:c.234A>G	XP_005263519.1:p.Ser78=
XM_005263463.2:c.-30A>G	XP_005263520.1:n.-30A>G
XM_011541495.1:c.354A>G	XP_011539797.1:p.Ser118=
XM_011541496.1:c.357A>G	XP_011539798.1:p.Ser119=
NM_001330358.1:c.357A>G	NP_001317287.1:p.Ser119=
XM_005263460.5:c.234A>G	XP_005263517.1:p.Ser78=
XM_005263462.4:c.234A>G	XP_005263519.1:p.Ser78=
XM_005263463.4:c.-30A>G	XP_005263520.1:n.-30A>G
XM_011541495.3:c.354A>G	XP_011539797.1:p.Ser118=
XM_011541496.3:c.357A>G	XP_011539798.1:p.Ser119=
XM_017001328.2:c.357A>G	XP_016856817.1:p.Ser119=
XM_024447198.1:c.-30A>G	XP_024302966.1:n.-30A>G
XR_002956640.1:n.1101A>G
NM_005957.5:c.234A>G MANE Select	NP_005948.3:p.Ser78=
NM_001330358.2:c.357A>G	NP_001317287.1:p.Ser119=