Canonical Allele Identifier: CA416120860

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 1626810
• ClinVar RCV Id: RCV002132767
• dbSNP Id: rs13306554
• MyVariant Identifiers: chr1:g.11856437G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11796380G>C , CM000663.2:g.11796380G>C	GRCh38
NC_000001.10:g.11856437G>C , CM000663.1:g.11856437G>C	GRCh37
NC_000001.9:g.11779024G>C	NCBI36
NG_013351.1:g.14724C>G , LRG_726:g.14724C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.606C>G	ENSP00000365669.3:p.Pro202=
ENST00000376585.6:c.729C>G	ENSP00000365770.1:p.Pro243=
ENST00000376590.9:c.606C>G MANE Select	ENSP00000365775.3:p.Pro202=
ENST00000376592.6:c.606C>G	ENSP00000365777.1:p.Pro202=
ENST00000423400.7:c.726C>G	ENSP00000398908.3:p.Pro242=
ENST00000641407.1:c.606C>G	ENSP00000493098.1:p.Pro202=
ENST00000641446.1:c.606C>G	ENSP00000493262.1:p.Pro202=
ENST00000641721.1:n.644-1032C>G
ENST00000641747.1:c.*118C>G	ENSP00000493116.1:n.*118C>G
ENST00000641759.1:n.741C>G
ENST00000641805.1:n.889C>G
ENST00000641820.1:c.-130C>G	ENSP00000492937.1:n.-130C>G
ENST00000376583.7:c.729C>G	ENSP00000365767.3:p.Pro243=
ENST00000376585.5:c.729C>G	ENSP00000365770.1:p.Pro243=
ENST00000376590.7:c.606C>G	ENSP00000365775.3:p.Pro202=
ENST00000376592.5:c.606C>G	ENSP00000365777.1:p.Pro202=
NM_005957.4:c.606C>G , LRG_726t1:c.606C>G	NP_005948.3:p.Pro202=
XM_005263458.2:c.729C>G	XP_005263515.1:p.Pro243=
XM_005263460.3:c.606C>G	XP_005263517.1:p.Pro202=
XM_005263461.3:c.606C>G	XP_005263518.1:p.Pro202=
XM_005263462.3:c.606C>G	XP_005263519.1:p.Pro202=
XM_005263463.2:c.360C>G	XP_005263520.1:p.Pro120=
XM_011541495.1:c.726C>G	XP_011539797.1:p.Pro242=
XM_011541496.1:c.729C>G	XP_011539798.1:p.Pro243=
NM_001330358.1:c.729C>G	NP_001317287.1:p.Pro243=
XM_005263460.5:c.606C>G	XP_005263517.1:p.Pro202=
XM_005263462.4:c.606C>G	XP_005263519.1:p.Pro202=
XM_005263463.4:c.360C>G	XP_005263520.1:p.Pro120=
XM_011541495.3:c.726C>G	XP_011539797.1:p.Pro242=
XM_011541496.3:c.729C>G	XP_011539798.1:p.Pro243=
XM_017001328.2:c.729C>G	XP_016856817.1:p.Pro243=
XM_024447198.1:c.360C>G	XP_024302966.1:p.Pro120=
XR_002956640.1:n.1473C>G
NM_005957.5:c.606C>G MANE Select	NP_005948.3:p.Pro202=
NM_001330358.2:c.729C>G	NP_001317287.1:p.Pro243=