Canonical Allele Identifier: CA416119963

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 797674
• ClinVar RCV Id: RCV001501463
• dbSNP Id: rs1454380592
• gnomAD v2: 1-11852428-T-C
• gnomAD v3: 1-11792371-T-C
• gnomAD v4: 1-11792371-T-C
• MyVariant Identifiers: chr1:g.11852428T>C (hg19) ; chr1:g.11792371T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11792371T>C , CM000663.2:g.11792371T>C	GRCh38
NC_000001.10:g.11852428T>C , CM000663.1:g.11852428T>C	GRCh37
NC_000001.9:g.11775015T>C	NCBI36
NG_013351.1:g.18733A>G , LRG_726:g.18733A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1662A>G	ENSP00000365770.1:p.Leu554=
ENST00000376590.9:c.1539A>G MANE Select	ENSP00000365775.3:p.Leu513=
ENST00000376592.6:c.1539A>G	ENSP00000365777.1:p.Leu513=
ENST00000423400.7:c.1659A>G	ENSP00000398908.3:p.Leu553=
ENST00000641407.1:c.1539A>G	ENSP00000493098.1:p.Leu513=
ENST00000641446.1:c.1539A>G	ENSP00000493262.1:p.Leu513=
ENST00000641747.1:c.*1051A>G	ENSP00000493116.1:n.*1051A>G
ENST00000641759.1:n.1908A>G
ENST00000641805.1:n.2056A>G
ENST00000641820.1:c.804A>G	ENSP00000492937.1:p.Leu268=
ENST00000376583.7:c.1662A>G	ENSP00000365767.3:p.Leu554=
ENST00000376585.5:c.1662A>G	ENSP00000365770.1:p.Leu554=
ENST00000376590.7:c.1539A>G	ENSP00000365775.3:p.Leu513=
ENST00000376592.5:c.1539A>G	ENSP00000365777.1:p.Leu513=
NM_005957.4:c.1539A>G , LRG_726t1:c.1539A>G	NP_005948.3:p.Leu513=
XM_005263458.2:c.1662A>G	XP_005263515.1:p.Leu554=
XM_005263460.3:c.1539A>G	XP_005263517.1:p.Leu513=
XM_005263461.3:c.1539A>G	XP_005263518.1:p.Leu513=
XM_005263462.3:c.1539A>G	XP_005263519.1:p.Leu513=
XM_005263463.2:c.1293A>G	XP_005263520.1:p.Leu431=
XM_011541495.1:c.1659A>G	XP_011539797.1:p.Leu553=
XM_011541496.1:c.1662A>G	XP_011539798.1:p.Leu554=
NM_001330358.1:c.1662A>G	NP_001317287.1:p.Leu554=
XM_005263460.5:c.1539A>G	XP_005263517.1:p.Leu513=
XM_005263462.4:c.1539A>G	XP_005263519.1:p.Leu513=
XM_005263463.4:c.1293A>G	XP_005263520.1:p.Leu431=
XM_011541495.3:c.1659A>G	XP_011539797.1:p.Leu553=
XM_011541496.3:c.1662A>G	XP_011539798.1:p.Leu554=
XM_017001328.2:c.1662A>G	XP_016856817.1:p.Leu554=
XM_024447198.1:c.1293A>G	XP_024302966.1:p.Leu431=
XR_002956640.1:n.2640A>G
NM_005957.5:c.1539A>G MANE Select	NP_005948.3:p.Leu513=
NM_001330358.2:c.1662A>G	NP_001317287.1:p.Leu554=