Canonical Allele Identifier: CA886043629

Gene: MTHFR

Linked Data

• dbSNP Id: rs1373585943
• gnomAD v3: 1-11795310-C-CT
• gnomAD v4: 1-11795310-C-CT
• MyVariant Identifiers: chr1:g.11855367_11855368insT (hg19) ; chr1:g.11795310_11795311insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795312dup , CM000663.2:g.11795312dup	GRCh38
NC_000001.10:g.11855369dup , CM000663.1:g.11855369dup	GRCh37
NC_000001.9:g.11777956dup	NCBI36
NG_013351.1:g.15793dup , LRG_726:g.15793dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.941dup	ENSP00000365770.1:p.Leu315AlafsTer12
ENST00000376590.9:c.818dup MANE Select	ENSP00000365775.3:p.Leu274AlafsTer12
ENST00000376592.6:c.818dup	ENSP00000365777.1:p.Leu274AlafsTer12
ENST00000423400.7:c.938dup	ENSP00000398908.3:p.Leu314AlafsTer12
ENST00000641407.1:c.818dup	ENSP00000493098.1:p.Leu274AlafsTer12
ENST00000641446.1:c.818dup	ENSP00000493262.1:p.Leu274AlafsTer12
ENST00000641721.1:n.681dup
ENST00000641747.1:c.*330dup	ENSP00000493116.1:n.*330dup
ENST00000641759.1:n.953dup
ENST00000641805.1:n.1101dup
ENST00000641820.1:c.83dup	ENSP00000492937.1:p.Leu29AlafsTer12
ENST00000376583.7:c.941dup	ENSP00000365767.3:p.Leu315AlafsTer12
ENST00000376585.5:c.941dup	ENSP00000365770.1:p.Leu315AlafsTer12
ENST00000376590.7:c.818dup	ENSP00000365775.3:p.Leu274AlafsTer12
ENST00000376592.5:c.818dup	ENSP00000365777.1:p.Leu274AlafsTer12
NM_005957.4:c.818dup , LRG_726t1:c.818dup	NP_005948.3:p.Leu274AlafsTer12
XM_005263458.2:c.941dup	XP_005263515.1:p.Leu315AlafsTer12
XM_005263460.3:c.818dup	XP_005263517.1:p.Leu274AlafsTer12
XM_005263461.3:c.818dup	XP_005263518.1:p.Leu274AlafsTer12
XM_005263462.3:c.818dup	XP_005263519.1:p.Leu274AlafsTer12
XM_005263463.2:c.572dup	XP_005263520.1:p.Leu192AlafsTer12
XM_011541495.1:c.938dup	XP_011539797.1:p.Leu314AlafsTer12
XM_011541496.1:c.941dup	XP_011539798.1:p.Leu315AlafsTer12
NM_001330358.1:c.941dup	NP_001317287.1:p.Leu315AlafsTer12
XM_005263460.5:c.818dup	XP_005263517.1:p.Leu274AlafsTer12
XM_005263462.4:c.818dup	XP_005263519.1:p.Leu274AlafsTer12
XM_005263463.4:c.572dup	XP_005263520.1:p.Leu192AlafsTer12
XM_011541495.3:c.938dup	XP_011539797.1:p.Leu314AlafsTer12
XM_011541496.3:c.941dup	XP_011539798.1:p.Leu315AlafsTer12
XM_017001328.2:c.941dup	XP_016856817.1:p.Leu315AlafsTer12
XM_024447198.1:c.572dup	XP_024302966.1:p.Leu192AlafsTer12
XR_002956640.1:n.1685dup
NM_005957.5:c.818dup MANE Select	NP_005948.3:p.Leu274AlafsTer12
NM_001330358.2:c.941dup	NP_001317287.1:p.Leu315AlafsTer12