Canonical Allele Identifier: CA338480540
Community Standard Title: NM_005957.5(MTHFR):c.778C>T (p.Gln260Ter)
Gene: MTHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11796208G>A , CM000663.2:g.11796208G>A GRCh38
NC_000001.10:g.11856265G>A , CM000663.1:g.11856265G>A GRCh37
NC_000001.9:g.11778852G>A NCBI36
NG_013351.1:g.14896C>T , LRG_726:g.14896C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005957.5:c.778C>T MANE Select NP_005948.3:p.Gln260Ter
ENST00000376590.9:c.778C>T MANE Select ENSP00000365775.3:p.Gln260Ter
NM_001330358.1:c.901C>T NP_001317287.1:p.Gln301Ter
NM_001330358.2:c.901C>T NP_001317287.1:p.Gln301Ter
NM_005957.4:c.778C>T , LRG_726t1:c.778C>T NP_005948.3:p.Gln260Ter
ENST00000376583.7:c.901C>T ENSP00000365767.3:p.Gln301Ter
ENST00000376585.5:c.901C>T ENSP00000365770.1:p.Gln301Ter
ENST00000376585.6:c.901C>T ENSP00000365770.1:p.Gln301Ter
ENST00000376590.7:c.778C>T ENSP00000365775.3:p.Gln260Ter
ENST00000376592.5:c.778C>T ENSP00000365777.1:p.Gln260Ter
ENST00000376592.6:c.778C>T ENSP00000365777.1:p.Gln260Ter
ENST00000423400.7:c.898C>T ENSP00000398908.3:p.Gln300Ter
ENST00000641407.1:c.778C>T ENSP00000493098.1:p.Gln260Ter
ENST00000641446.1:c.778C>T ENSP00000493262.1:p.Gln260Ter
ENST00000641721.1:n.644-860C>T
ENST00000641747.1:c.*290C>T ENSP00000493116.1:n.*290C>T
ENST00000641759.1:n.913C>T
ENST00000641805.1:n.1061C>T
ENST00000641820.1:c.43C>T ENSP00000492937.1:p.Gln15Ter
XM_005263458.2:c.901C>T XP_005263515.1:p.Gln301Ter
XM_005263460.3:c.778C>T XP_005263517.1:p.Gln260Ter
XM_005263460.5:c.778C>T XP_005263517.1:p.Gln260Ter
XM_005263461.3:c.778C>T XP_005263518.1:p.Gln260Ter
XM_005263462.3:c.778C>T XP_005263519.1:p.Gln260Ter
XM_005263462.4:c.778C>T XP_005263519.1:p.Gln260Ter
XM_005263463.2:c.532C>T XP_005263520.1:p.Gln178Ter
XM_005263463.4:c.532C>T XP_005263520.1:p.Gln178Ter
XM_011541495.1:c.898C>T XP_011539797.1:p.Gln300Ter
XM_011541495.3:c.898C>T XP_011539797.1:p.Gln300Ter
XM_011541496.1:c.901C>T XP_011539798.1:p.Gln301Ter
XM_011541496.3:c.901C>T XP_011539798.1:p.Gln301Ter
XM_017001328.2:c.901C>T XP_016856817.1:p.Gln301Ter
XM_024447198.1:c.532C>T XP_024302966.1:p.Gln178Ter
XR_002956640.1:n.1645C>T