Canonical Allele Identifier: CA15069701
Gene: MTHFR HGNC NCBI

Linked Data

ClinVar Variation Id: 1237104
ClinVar RCV Id: RCV001635596
dbSNP Id: rs17367504
gnomAD v2: 1-11862778-A-G
gnomAD v3: 1-11802721-A-G
gnomAD v4: 1-11802721-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11802721A>G , CM000663.2:g.11802721A>G GRCh38
NC_000001.10:g.11862778A>G , CM000663.1:g.11862778A>G GRCh37
NC_000001.9:g.11785365A>G NCBI36
NG_008766.1:g.1572A>G
NG_013351.1:g.8383T>C , LRG_726:g.8383T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376486.3:c.236+160T>C ENSP00000365669.3:n.236+160T>C
ENST00000376585.6:c.359+160T>C ENSP00000365770.1:n.359+160T>C
ENST00000376590.9:c.236+160T>C MANE Select ENSP00000365775.3:n.236+160T>C
ENST00000376592.6:c.236+160T>C ENSP00000365777.1:n.236+160T>C
ENST00000423400.7:c.356+160T>C ENSP00000398908.3:n.356+160T>C
ENST00000431243.6:n.1017+160T>C
ENST00000641407.1:c.236+160T>C ENSP00000493098.1:n.236+160T>C
ENST00000641437.1:n.368+160T>C
ENST00000641446.1:c.236+160T>C ENSP00000493262.1:n.236+160T>C
ENST00000641721.1:n.293+160T>C
ENST00000641747.1:c.236+160T>C ENSP00000493116.1:n.236+160T>C
ENST00000641759.1:n.371+160T>C
ENST00000641805.1:n.519+160T>C
ENST00000641909.1:n.646+160T>C
ENST00000642002.1:n.465+160T>C
ENST00000376583.7:c.359+160T>C ENSP00000365767.3:n.359+160T>C
ENST00000376585.5:c.359+160T>C ENSP00000365770.1:n.359+160T>C
ENST00000376590.7:c.236+160T>C ENSP00000365775.3:n.236+160T>C
ENST00000376592.5:c.236+160T>C ENSP00000365777.1:n.236+160T>C
ENST00000418034.1:c.236+160T>C ENSP00000405082.1:n.236+160T>C
NM_005957.4:c.236+160T>C , LRG_726t1:c.236+160T>C NP_005948.3:n.236+160T>C
XM_005263458.2:c.359+160T>C XP_005263515.1:n.359+160T>C
XM_005263460.3:c.236+160T>C XP_005263517.1:n.236+160T>C
XM_005263461.3:c.236+160T>C XP_005263518.1:n.236+160T>C
XM_005263462.3:c.236+160T>C XP_005263519.1:n.236+160T>C
XM_005263463.2:c.-28+160T>C XP_005263520.1:n.-28+160T>C
XM_011541495.1:c.356+160T>C XP_011539797.1:n.356+160T>C
XM_011541496.1:c.359+160T>C XP_011539798.1:n.359+160T>C
NM_001330358.1:c.359+160T>C NP_001317287.1:n.359+160T>C
XM_005263460.5:c.236+160T>C XP_005263517.1:n.236+160T>C
XM_005263462.4:c.236+160T>C XP_005263519.1:n.236+160T>C
XM_005263463.4:c.-28+160T>C XP_005263520.1:n.-28+160T>C
XM_011541495.3:c.356+160T>C XP_011539797.1:n.356+160T>C
XM_011541496.3:c.359+160T>C XP_011539798.1:n.359+160T>C
XM_017001328.2:c.359+160T>C XP_016856817.1:n.359+160T>C
XM_024447198.1:c.-28+160T>C XP_024302966.1:n.-28+160T>C
XR_002956640.1:n.1103+160T>C
NM_005957.5:c.236+160T>C MANE Select NP_005948.3:n.236+160T>C
NM_001330358.2:c.359+160T>C NP_001317287.1:n.359+160T>C