Canonical Allele Identifier: CA338422379

Gene: MTHFR

Linked Data

• dbSNP Id: rs1423805621
• gnomAD v3: 1-11801242-G-C
• gnomAD v4: 1-11801242-G-C
• MyVariant Identifiers: chr1:g.11861299G>C (hg19) ; chr1:g.11801242G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11801242G>C , CM000663.2:g.11801242G>C	GRCh38
NC_000001.10:g.11861299G>C , CM000663.1:g.11861299G>C	GRCh37
NC_000001.9:g.11783886G>C	NCBI36
NG_008766.1:g.93G>C
NG_013351.1:g.9862C>G , LRG_726:g.9862C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.394C>G	ENSP00000365669.3:p.Arg132Gly
ENST00000376585.6:c.517C>G	ENSP00000365770.1:p.Arg173Gly
ENST00000376590.9:c.394C>G MANE Select	ENSP00000365775.3:p.Arg132Gly
ENST00000376592.6:c.394C>G	ENSP00000365777.1:p.Arg132Gly
ENST00000423400.7:c.514C>G	ENSP00000398908.3:p.Arg172Gly
ENST00000641407.1:c.394C>G	ENSP00000493098.1:p.Arg132Gly
ENST00000641437.1:n.526C>G
ENST00000641446.1:c.394C>G	ENSP00000493262.1:p.Arg132Gly
ENST00000641721.1:n.451C>G
ENST00000641747.1:c.237-920C>G	ENSP00000493116.1:n.237-920C>G
ENST00000641759.1:n.529C>G
ENST00000641805.1:n.677C>G
ENST00000641909.1:n.804C>G
ENST00000376583.7:c.517C>G	ENSP00000365767.3:p.Arg173Gly
ENST00000376585.5:c.517C>G	ENSP00000365770.1:p.Arg173Gly
ENST00000376590.7:c.394C>G	ENSP00000365775.3:p.Arg132Gly
ENST00000376592.5:c.394C>G	ENSP00000365777.1:p.Arg132Gly
ENST00000418034.1:c.394C>G	ENSP00000405082.1:p.Arg132Gly
NM_005957.4:c.394C>G , LRG_726t1:c.394C>G	NP_005948.3:p.Arg132Gly
XM_005263458.2:c.517C>G	XP_005263515.1:p.Arg173Gly
XM_005263460.3:c.394C>G	XP_005263517.1:p.Arg132Gly
XM_005263461.3:c.394C>G	XP_005263518.1:p.Arg132Gly
XM_005263462.3:c.394C>G	XP_005263519.1:p.Arg132Gly
XM_005263463.2:c.148C>G	XP_005263520.1:p.Arg50Gly
XM_011541495.1:c.514C>G	XP_011539797.1:p.Arg172Gly
XM_011541496.1:c.517C>G	XP_011539798.1:p.Arg173Gly
NM_001330358.1:c.517C>G	NP_001317287.1:p.Arg173Gly
XM_005263460.5:c.394C>G	XP_005263517.1:p.Arg132Gly
XM_005263462.4:c.394C>G	XP_005263519.1:p.Arg132Gly
XM_005263463.4:c.148C>G	XP_005263520.1:p.Arg50Gly
XM_011541495.3:c.514C>G	XP_011539797.1:p.Arg172Gly
XM_011541496.3:c.517C>G	XP_011539798.1:p.Arg173Gly
XM_017001328.2:c.517C>G	XP_016856817.1:p.Arg173Gly
XM_024447198.1:c.148C>G	XP_024302966.1:p.Arg50Gly
XR_002956640.1:n.1261C>G
NM_005957.5:c.394C>G MANE Select	NP_005948.3:p.Arg132Gly
NM_001330358.2:c.517C>G	NP_001317287.1:p.Arg173Gly