Canonical Allele Identifier: CA2643306328
Gene: MTHFR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11792479dup , CM000663.2:g.11792479dup GRCh38
NC_000001.10:g.11852536dup , CM000663.1:g.11852536dup GRCh37
NC_000001.9:g.11775123dup NCBI36
NG_013351.1:g.18626dup , LRG_726:g.18626dup

Transcript Alleles

HGVS Amino-acid change
ENST00000376585.6:c.1654-99dup ENSP00000365770.1:n.1654-99dup
ENST00000376590.9:c.1531-99dup MANE Select ENSP00000365775.3:n.1531-99dup
ENST00000376592.6:c.1531-99dup ENSP00000365777.1:n.1531-99dup
ENST00000423400.7:c.1651-99dup ENSP00000398908.3:n.1651-99dup
ENST00000641407.1:c.1531-99dup ENSP00000493098.1:n.1531-99dup
ENST00000641446.1:c.1531-99dup ENSP00000493262.1:n.1531-99dup
ENST00000641747.1:c.*1043-99dup ENSP00000493116.1:n.*1043-99dup
ENST00000641759.1:n.1900-99dup
ENST00000641805.1:n.2048-99dup
ENST00000641820.1:c.796-99dup ENSP00000492937.1:n.796-99dup
ENST00000376583.7:c.1654-99dup ENSP00000365767.3:n.1654-99dup
ENST00000376585.5:c.1654-99dup ENSP00000365770.1:n.1654-99dup
ENST00000376590.7:c.1531-99dup ENSP00000365775.3:n.1531-99dup
ENST00000376592.5:c.1531-99dup ENSP00000365777.1:n.1531-99dup
NM_005957.4:c.1531-99dup , LRG_726t1:c.1531-99dup NP_005948.3:n.1531-99dup
XM_005263458.2:c.1654-99dup XP_005263515.1:n.1654-99dup
XM_005263460.3:c.1531-99dup XP_005263517.1:n.1531-99dup
XM_005263461.3:c.1531-99dup XP_005263518.1:n.1531-99dup
XM_005263462.3:c.1531-99dup XP_005263519.1:n.1531-99dup
XM_005263463.2:c.1285-99dup XP_005263520.1:n.1285-99dup
XM_011541495.1:c.1651-99dup XP_011539797.1:n.1651-99dup
XM_011541496.1:c.1654-99dup XP_011539798.1:n.1654-99dup
NM_001330358.1:c.1654-99dup NP_001317287.1:n.1654-99dup
XM_005263460.5:c.1531-99dup XP_005263517.1:n.1531-99dup
XM_005263462.4:c.1531-99dup XP_005263519.1:n.1531-99dup
XM_005263463.4:c.1285-99dup XP_005263520.1:n.1285-99dup
XM_011541495.3:c.1651-99dup XP_011539797.1:n.1651-99dup
XM_011541496.3:c.1654-99dup XP_011539798.1:n.1654-99dup
XM_017001328.2:c.1654-99dup XP_016856817.1:n.1654-99dup
XM_024447198.1:c.1285-99dup XP_024302966.1:n.1285-99dup
XR_002956640.1:n.2632-99dup
NM_005957.5:c.1531-99dup MANE Select NP_005948.3:n.1531-99dup
NM_001330358.2:c.1654-99dup NP_001317287.1:n.1654-99dup