Canonical Allele Identifier: CA16044130
Gene: MTHFR HGNC NCBI

Linked Data

ClinVar Variation Id: 222897
ClinVar RCV Id: RCV000416933
dbSNP Id: rs1057519363
MyVariant Identifiers: chr1:g.11852374del (hg19) chr1:g.11792317del (hg38)
PubMed: PMID:20490923 PMID:25736335 PMID:26872964
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11792317del , CM000663.2:g.11792317del GRCh38
NC_000001.10:g.11852374del , CM000663.1:g.11852374del GRCh37
NC_000001.9:g.11774961del NCBI36
NG_013351.1:g.18787del , LRG_726:g.18787del

Transcript Alleles

HGVS Amino-acid change
ENST00000376585.6:c.1716del ENSP00000365770.1:p.Lys572AsnfsTer13
ENST00000376590.9:c.1593del MANE Select ENSP00000365775.3:p.Lys531AsnfsTer13
ENST00000376592.6:c.1593del ENSP00000365777.1:p.Lys531AsnfsTer13
ENST00000423400.7:c.1713del ENSP00000398908.3:p.Lys571AsnfsTer13
ENST00000641407.1:c.1593del ENSP00000493098.1:p.Lys531AsnfsTer13
ENST00000641446.1:c.1593del ENSP00000493262.1:p.Lys531AsnfsTer13
ENST00000641747.1:c.*1105del ENSP00000493116.1:n.*1105del
ENST00000641759.1:n.1962del
ENST00000641805.1:n.2110del
ENST00000641820.1:c.858del ENSP00000492937.1:p.Lys286AsnfsTer13
ENST00000376583.7:c.1716del ENSP00000365767.3:p.Lys572AsnfsTer13
ENST00000376585.5:c.1716del ENSP00000365770.1:p.Lys572AsnfsTer13
ENST00000376590.7:c.1593del ENSP00000365775.3:p.Lys531AsnfsTer13
ENST00000376592.5:c.1593del ENSP00000365777.1:p.Lys531AsnfsTer13
NM_005957.4:c.1593del , LRG_726t1:c.1593del NP_005948.3:p.Lys531AsnfsTer13
XM_005263458.2:c.1716del XP_005263515.1:p.Lys572AsnfsTer13
XM_005263460.3:c.1593del XP_005263517.1:p.Lys531AsnfsTer13
XM_005263461.3:c.1593del XP_005263518.1:p.Lys531AsnfsTer13
XM_005263462.3:c.1593del XP_005263519.1:p.Lys531AsnfsTer13
XM_005263463.2:c.1347del XP_005263520.1:p.Lys449AsnfsTer13
XM_011541495.1:c.1713del XP_011539797.1:p.Lys571AsnfsTer13
XM_011541496.1:c.1716del XP_011539798.1:p.Lys572AsnfsTer13
NM_001330358.1:c.1716del NP_001317287.1:p.Lys572AsnfsTer13
XM_005263460.5:c.1593del XP_005263517.1:p.Lys531AsnfsTer13
XM_005263462.4:c.1593del XP_005263519.1:p.Lys531AsnfsTer13
XM_005263463.4:c.1347del XP_005263520.1:p.Lys449AsnfsTer13
XM_011541495.3:c.1713del XP_011539797.1:p.Lys571AsnfsTer13
XM_011541496.3:c.1716del XP_011539798.1:p.Lys572AsnfsTer13
XM_017001328.2:c.1716del XP_016856817.1:p.Lys572AsnfsTer13
XM_024447198.1:c.1347del XP_024302966.1:p.Lys449AsnfsTer13
XR_002956640.1:n.2694del
NM_005957.5:c.1593del MANE Select NP_005948.3:p.Lys531AsnfsTer13
NM_001330358.2:c.1716del NP_001317287.1:p.Lys572AsnfsTer13
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