Canonical Allele Identifier: CA16044134
Gene: MTHFR HGNC NCBI

Linked Data

ClinVar Variation Id: 222892
ClinVar RCV Id: RCV000416674 RCV002265687
dbSNP Id: rs1057519359
MyVariant Identifiers: chr1:g.11862937C>T (hg19) chr1:g.11802880C>T (hg38)
MutSpliceDB: CA16044134
PubMed: PMID:25736335 PMID:25856670 PMID:26872964
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11802880C>T , CM000663.2:g.11802880C>T GRCh38
NC_000001.10:g.11862937C>T , CM000663.1:g.11862937C>T GRCh37
NC_000001.9:g.11785524C>T NCBI36
NG_008766.1:g.1731C>T
NG_013351.1:g.8224G>A , LRG_726:g.8224G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376486.3:c.236+1G>A ENSP00000365669.3:n.236+1G>A
ENST00000376585.6:c.359+1G>A ENSP00000365770.1:n.359+1G>A
ENST00000376590.9:c.236+1G>A MANE Select ENSP00000365775.3:n.236+1G>A
ENST00000376592.6:c.236+1G>A ENSP00000365777.1:n.236+1G>A
ENST00000423400.7:c.356+1G>A ENSP00000398908.3:n.356+1G>A
ENST00000431243.6:n.1017+1G>A
ENST00000641407.1:c.236+1G>A ENSP00000493098.1:n.236+1G>A
ENST00000641437.1:n.368+1G>A
ENST00000641446.1:c.236+1G>A ENSP00000493262.1:n.236+1G>A
ENST00000641721.1:n.293+1G>A
ENST00000641747.1:c.236+1G>A ENSP00000493116.1:n.236+1G>A
ENST00000641759.1:n.371+1G>A
ENST00000641805.1:n.519+1G>A
ENST00000641909.1:n.646+1G>A
ENST00000642002.1:n.465+1G>A
ENST00000376583.7:c.359+1G>A ENSP00000365767.3:n.359+1G>A
ENST00000376585.5:c.359+1G>A ENSP00000365770.1:n.359+1G>A
ENST00000376590.7:c.236+1G>A ENSP00000365775.3:n.236+1G>A
ENST00000376592.5:c.236+1G>A ENSP00000365777.1:n.236+1G>A
ENST00000418034.1:c.236+1G>A ENSP00000405082.1:n.236+1G>A
NM_005957.4:c.236+1G>A , LRG_726t1:c.236+1G>A NP_005948.3:n.236+1G>A
XM_005263458.2:c.359+1G>A XP_005263515.1:n.359+1G>A
XM_005263460.3:c.236+1G>A XP_005263517.1:n.236+1G>A
XM_005263461.3:c.236+1G>A XP_005263518.1:n.236+1G>A
XM_005263462.3:c.236+1G>A XP_005263519.1:n.236+1G>A
XM_005263463.2:c.-28+1G>A XP_005263520.1:n.-28+1G>A
XM_011541495.1:c.356+1G>A XP_011539797.1:n.356+1G>A
XM_011541496.1:c.359+1G>A XP_011539798.1:n.359+1G>A
NM_001330358.1:c.359+1G>A NP_001317287.1:n.359+1G>A
XM_005263460.5:c.236+1G>A XP_005263517.1:n.236+1G>A
XM_005263462.4:c.236+1G>A XP_005263519.1:n.236+1G>A
XM_005263463.4:c.-28+1G>A XP_005263520.1:n.-28+1G>A
XM_011541495.3:c.356+1G>A XP_011539797.1:n.356+1G>A
XM_011541496.3:c.359+1G>A XP_011539798.1:n.359+1G>A
XM_017001328.2:c.359+1G>A XP_016856817.1:n.359+1G>A
XM_024447198.1:c.-28+1G>A XP_024302966.1:n.-28+1G>A
XR_002956640.1:n.1103+1G>A
NM_005957.5:c.236+1G>A MANE Select NP_005948.3:n.236+1G>A
NM_001330358.2:c.359+1G>A NP_001317287.1:n.359+1G>A
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