Canonical Allele Identifier: CA416119837
Gene: MTHFR HGNC NCBI

Linked Data

gnomAD v4: 1-11791243-G-C
MyVariant Identifiers: chr1:g.11851300G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11791243G>C , CM000663.2:g.11791243G>C GRCh38
NC_000001.10:g.11851300G>C , CM000663.1:g.11851300G>C GRCh37
NC_000001.9:g.11773887G>C NCBI36
NG_013351.1:g.19861C>G , LRG_726:g.19861C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.1839C>G ENSP00000365770.1:p.Pro613=
ENST00000376590.9:c.1716C>G MANE Select ENSP00000365775.3:p.Pro572=
ENST00000376592.6:c.1716C>G ENSP00000365777.1:p.Pro572=
ENST00000423400.7:c.1836C>G ENSP00000398908.3:p.Pro612=
ENST00000641407.1:c.1716C>G ENSP00000493098.1:p.Pro572=
ENST00000641446.1:c.*175C>G ENSP00000493262.1:n.*175C>G
ENST00000641747.1:c.*1228C>G ENSP00000493116.1:n.*1228C>G
ENST00000641759.1:n.2085C>G
ENST00000641805.1:n.2233C>G
ENST00000641820.1:c.981C>G ENSP00000492937.1:p.Pro327=
ENST00000376583.7:c.1839C>G ENSP00000365767.3:p.Pro613=
ENST00000376585.5:c.1839C>G ENSP00000365770.1:p.Pro613=
ENST00000376590.7:c.1716C>G ENSP00000365775.3:p.Pro572=
ENST00000376592.5:c.1716C>G ENSP00000365777.1:p.Pro572=
NM_005957.4:c.1716C>G , LRG_726t1:c.1716C>G NP_005948.3:p.Pro572=
XM_005263458.2:c.1839C>G XP_005263515.1:p.Pro613=
XM_005263460.3:c.1716C>G XP_005263517.1:p.Pro572=
XM_005263461.3:c.1716C>G XP_005263518.1:p.Pro572=
XM_005263462.3:c.1716C>G XP_005263519.1:p.Pro572=
XM_005263463.2:c.1470C>G XP_005263520.1:p.Pro490=
XM_011541495.1:c.1836C>G XP_011539797.1:p.Pro612=
XM_011541496.1:c.1839C>G XP_011539798.1:p.Pro613=
NM_001330358.1:c.1839C>G NP_001317287.1:p.Pro613=
XM_005263460.5:c.1716C>G XP_005263517.1:p.Pro572=
XM_005263462.4:c.1716C>G XP_005263519.1:p.Pro572=
XM_005263463.4:c.1470C>G XP_005263520.1:p.Pro490=
XM_011541495.3:c.1836C>G XP_011539797.1:p.Pro612=
XM_011541496.3:c.1839C>G XP_011539798.1:p.Pro613=
XM_017001328.2:c.1839C>G XP_016856817.1:p.Pro613=
XM_024447198.1:c.1470C>G XP_024302966.1:p.Pro490=
XR_002956640.1:n.2817C>G
NM_005957.5:c.1716C>G MANE Select NP_005948.3:p.Pro572=
NM_001330358.2:c.1839C>G NP_001317287.1:p.Pro613=