Canonical Allele Identifier: CA174515

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 161642
• ClinVar RCV Id: RCV000149178
• dbSNP Id: rs193921032
• COSMIC: COSM1179006
• MyVariant Identifiers: chr1:g.11851277del (hg19) ; chr1:g.11791220del (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11791221del , CM000663.2:g.11791221del	GRCh38
NC_000001.10:g.11851278del , CM000663.1:g.11851278del	GRCh37
NC_000001.9:g.11773865del	NCBI36
NG_013351.1:g.19884del , LRG_726:g.19884del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1862del	ENSP00000365770.1:p.Phe621SerfsTer?
ENST00000376590.9:c.1739del MANE Select	ENSP00000365775.3:p.Phe580SerfsTer?
ENST00000376592.6:c.1739del	ENSP00000365777.1:p.Phe580SerfsTer?
ENST00000423400.7:c.1859del	ENSP00000398908.3:p.Phe620SerfsTer?
ENST00000641407.1:c.1739del	ENSP00000493098.1:p.Phe580SerfsTer17
ENST00000641446.1:c.*198del	ENSP00000493262.1:n.*198del
ENST00000641747.1:c.*1251del	ENSP00000493116.1:n.*1251del
ENST00000641759.1:n.2108del
ENST00000641805.1:n.2256del
ENST00000641820.1:c.1004del	ENSP00000492937.1:p.Phe335SerfsTer?
ENST00000376583.7:c.1862del	ENSP00000365767.3:p.Phe621SerfsTer?
ENST00000376585.5:c.1862del	ENSP00000365770.1:p.Phe621SerfsTer?
ENST00000376590.7:c.1739del	ENSP00000365775.3:p.Phe580SerfsTer?
ENST00000376592.5:c.1739del	ENSP00000365777.1:p.Phe580SerfsTer?
NM_005957.4:c.1739del , LRG_726t1:c.1739del	NP_005948.3:p.Phe580SerfsTer?
XM_005263458.2:c.1862del	XP_005263515.1:p.Phe621SerfsTer?
XM_005263460.3:c.1739del	XP_005263517.1:p.Phe580SerfsTer?
XM_005263461.3:c.1739del	XP_005263518.1:p.Phe580SerfsTer?
XM_005263462.3:c.1739del	XP_005263519.1:p.Phe580SerfsTer?
XM_005263463.2:c.1493del	XP_005263520.1:p.Phe498SerfsTer?
XM_011541495.1:c.1859del	XP_011539797.1:p.Phe620SerfsTer?
XM_011541496.1:c.1862del	XP_011539798.1:p.Phe621SerfsTer17
NM_001330358.1:c.1862del	NP_001317287.1:p.Phe621SerfsTer?
XM_005263460.5:c.1739del	XP_005263517.1:p.Phe580SerfsTer?
XM_005263462.4:c.1739del	XP_005263519.1:p.Phe580SerfsTer?
XM_005263463.4:c.1493del	XP_005263520.1:p.Phe498SerfsTer?
XM_011541495.3:c.1859del	XP_011539797.1:p.Phe620SerfsTer?
XM_011541496.3:c.1862del	XP_011539798.1:p.Phe621SerfsTer17
XM_017001328.2:c.1862del	XP_016856817.1:p.Phe621SerfsTer?
XM_024447198.1:c.1493del	XP_024302966.1:p.Phe498SerfsTer?
XR_002956640.1:n.2840del
NM_005957.5:c.1739del MANE Select	NP_005948.3:p.Phe580SerfsTer?
NM_001330358.2:c.1862del	NP_001317287.1:p.Phe621SerfsTer?