Canonical Allele Identifier: CA204396

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 208196
• ClinVar RCV Id: RCV000190392
• dbSNP Id: rs796064512
• MyVariant Identifiers: chr1:g.11862977G>A (hg19) ; chr1:g.11802920G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11802920G>A , CM000663.2:g.11802920G>A	GRCh38
NC_000001.10:g.11862977G>A , CM000663.1:g.11862977G>A	GRCh37
NC_000001.9:g.11785564G>A	NCBI36
NG_008766.1:g.1771G>A
NG_013351.1:g.8184C>T , LRG_726:g.8184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.197C>T	ENSP00000365669.3:p.Pro66Leu
ENST00000376585.6:c.320C>T	ENSP00000365770.1:p.Pro107Leu
ENST00000376590.9:c.197C>T MANE Select	ENSP00000365775.3:p.Pro66Leu
ENST00000376592.6:c.197C>T	ENSP00000365777.1:p.Pro66Leu
ENST00000423400.7:c.317C>T	ENSP00000398908.3:p.Pro106Leu
ENST00000431243.6:n.978C>T
ENST00000641407.1:c.197C>T	ENSP00000493098.1:p.Pro66Leu
ENST00000641437.1:n.329C>T
ENST00000641446.1:c.197C>T	ENSP00000493262.1:p.Pro66Leu
ENST00000641721.1:n.254C>T
ENST00000641747.1:c.197C>T	ENSP00000493116.1:p.Pro66Leu
ENST00000641759.1:n.332C>T
ENST00000641805.1:n.480C>T
ENST00000641909.1:n.607C>T
ENST00000642002.1:n.426C>T
ENST00000376583.7:c.320C>T	ENSP00000365767.3:p.Pro107Leu
ENST00000376585.5:c.320C>T	ENSP00000365770.1:p.Pro107Leu
ENST00000376590.7:c.197C>T	ENSP00000365775.3:p.Pro66Leu
ENST00000376592.5:c.197C>T	ENSP00000365777.1:p.Pro66Leu
ENST00000418034.1:c.197C>T	ENSP00000405082.1:p.Pro66Leu
NM_005957.4:c.197C>T , LRG_726t1:c.197C>T	NP_005948.3:p.Pro66Leu
XM_005263458.2:c.320C>T	XP_005263515.1:p.Pro107Leu
XM_005263460.3:c.197C>T	XP_005263517.1:p.Pro66Leu
XM_005263461.3:c.197C>T	XP_005263518.1:p.Pro66Leu
XM_005263462.3:c.197C>T	XP_005263519.1:p.Pro66Leu
XM_005263463.2:c.-67C>T	XP_005263520.1:n.-67C>T
XM_011541495.1:c.317C>T	XP_011539797.1:p.Pro106Leu
XM_011541496.1:c.320C>T	XP_011539798.1:p.Pro107Leu
NM_001330358.1:c.320C>T	NP_001317287.1:p.Pro107Leu
XM_005263460.5:c.197C>T	XP_005263517.1:p.Pro66Leu
XM_005263462.4:c.197C>T	XP_005263519.1:p.Pro66Leu
XM_005263463.4:c.-67C>T	XP_005263520.1:n.-67C>T
XM_011541495.3:c.317C>T	XP_011539797.1:p.Pro106Leu
XM_011541496.3:c.320C>T	XP_011539798.1:p.Pro107Leu
XM_017001328.2:c.320C>T	XP_016856817.1:p.Pro107Leu
XM_024447198.1:c.-67C>T	XP_024302966.1:n.-67C>T
XR_002956640.1:n.1064C>T
NM_005957.5:c.197C>T MANE Select	NP_005948.3:p.Pro66Leu
NM_001330358.2:c.320C>T	NP_001317287.1:p.Pro107Leu