Canonical Allele Identifier: CA916081998

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 848483
• ClinVar RCV Id: RCV001052251
• dbSNP Id: rs1644375837

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11801189_11801190delinsAA , CM000663.2:g.11801189_11801190delinsAA	GRCh38
NC_000001.10:g.11861246_11861247delinsAA , CM000663.1:g.11861246_11861247delinsAA	GRCh37
NC_000001.9:g.11783833_11783834delinsAA	NCBI36
NG_008766.1:g.40_41delinsAA
NG_013351.1:g.9914_9915delinsTT , LRG_726:g.9914_9915delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.446_447delinsTT	ENSP00000365669.3:p.Gly149Val
ENST00000376585.6:c.569_570delinsTT	ENSP00000365770.1:p.Gly190Val
ENST00000376590.9:c.446_447delinsTT MANE Select	ENSP00000365775.3:p.Gly149Val
ENST00000376592.6:c.446_447delinsTT	ENSP00000365777.1:p.Gly149Val
ENST00000423400.7:c.566_567delinsTT	ENSP00000398908.3:p.Gly189Val
ENST00000641407.1:c.446_447delinsTT	ENSP00000493098.1:p.Gly149Val
ENST00000641437.1:n.578_579delinsTT
ENST00000641446.1:c.446_447delinsTT	ENSP00000493262.1:p.Gly149Val
ENST00000641721.1:n.503_504delinsTT
ENST00000641747.1:c.237-868_237-867delinsTT	ENSP00000493116.1:n.237-868_237-867delinsTT
ENST00000641759.1:n.581_582delinsTT
ENST00000641805.1:n.729_730delinsTT
ENST00000641909.1:n.856_857delinsTT
ENST00000376583.7:c.569_570delinsTT	ENSP00000365767.3:p.Gly190Val
ENST00000376585.5:c.569_570delinsTT	ENSP00000365770.1:p.Gly190Val
ENST00000376590.7:c.446_447delinsTT	ENSP00000365775.3:p.Gly149Val
ENST00000376592.5:c.446_447delinsTT	ENSP00000365777.1:p.Gly149Val
NM_005957.4:c.446_447delinsTT , LRG_726t1:c.446_447delinsTT	NP_005948.3:p.Gly149Val
XM_005263458.2:c.569_570delinsTT	XP_005263515.1:p.Gly190Val
XM_005263460.3:c.446_447delinsTT	XP_005263517.1:p.Gly149Val
XM_005263461.3:c.446_447delinsTT	XP_005263518.1:p.Gly149Val
XM_005263462.3:c.446_447delinsTT	XP_005263519.1:p.Gly149Val
XM_005263463.2:c.200_201delinsTT	XP_005263520.1:p.Gly67Val
XM_011541495.1:c.566_567delinsTT	XP_011539797.1:p.Gly189Val
XM_011541496.1:c.569_570delinsTT	XP_011539798.1:p.Gly190Val
NM_001330358.1:c.569_570delinsTT	NP_001317287.1:p.Gly190Val
XM_005263460.5:c.446_447delinsTT	XP_005263517.1:p.Gly149Val
XM_005263462.4:c.446_447delinsTT	XP_005263519.1:p.Gly149Val
XM_005263463.4:c.200_201delinsTT	XP_005263520.1:p.Gly67Val
XM_011541495.3:c.566_567delinsTT	XP_011539797.1:p.Gly189Val
XM_011541496.3:c.569_570delinsTT	XP_011539798.1:p.Gly190Val
XM_017001328.2:c.569_570delinsTT	XP_016856817.1:p.Gly190Val
XM_024447198.1:c.200_201delinsTT	XP_024302966.1:p.Gly67Val
XR_002956640.1:n.1313_1314delinsTT
NM_005957.5:c.446_447delinsTT MANE Select	NP_005948.3:p.Gly149Val
NM_001330358.2:c.569_570delinsTT	NP_001317287.1:p.Gly190Val