Canonical Allele Identifier: CA338472987
Community Standard Title: NM_005957.5(MTHFR):c.1970G>T (p.Ter657Leu)
Gene: MTHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11790681C>A , CM000663.2:g.11790681C>A GRCh38
NC_000001.10:g.11850738C>A , CM000663.1:g.11850738C>A GRCh37
NC_000001.9:g.11773325C>A NCBI36
NG_013351.1:g.20423G>T , LRG_726:g.20423G>T

Transcript Alleles

HGVS Amino-acid Change
NM_005957.5:c.1970G>T MANE Select NP_005948.3:p.Ter657Leu
ENST00000376590.9:c.1970G>T MANE Select ENSP00000365775.3:p.Ter657Leu
NM_001330358.1:c.2093G>T NP_001317287.1:p.Ter698Leu
NM_001330358.2:c.2093G>T NP_001317287.1:p.Ter698Leu
NM_005957.4:c.1970G>T , LRG_726t1:c.1970G>T NP_005948.3:p.Ter657Leu
ENST00000376583.7:c.2093G>T ENSP00000365767.3:p.Ter698Leu
ENST00000376585.5:c.2093G>T ENSP00000365770.1:p.Ter698Leu
ENST00000376585.6:c.2093G>T ENSP00000365770.1:p.Ter698Leu
ENST00000376590.7:c.1970G>T ENSP00000365775.3:p.Ter657Leu
ENST00000376592.5:c.1970G>T ENSP00000365777.1:p.Ter657Leu
ENST00000376592.6:c.1970G>T ENSP00000365777.1:p.Ter657Leu
ENST00000423400.7:c.2090G>T ENSP00000398908.3:p.Ter697Leu
ENST00000641407.1:c.1788G>T ENSP00000493098.1:p.Met596Ile
ENST00000641446.1:c.*429G>T ENSP00000493262.1:n.*429G>T
ENST00000641747.1:c.*1482G>T ENSP00000493116.1:n.*1482G>T
ENST00000641759.1:n.2339G>T
ENST00000641805.1:n.2305G>T
ENST00000641820.1:c.1235G>T ENSP00000492937.1:p.Ter412Leu
XM_005263458.2:c.2093G>T XP_005263515.1:p.Ter698Leu
XM_005263460.3:c.1970G>T XP_005263517.1:p.Ter657Leu
XM_005263460.5:c.1970G>T XP_005263517.1:p.Ter657Leu
XM_005263461.3:c.1970G>T XP_005263518.1:p.Ter657Leu
XM_005263462.3:c.1970G>T XP_005263519.1:p.Ter657Leu
XM_005263462.4:c.1970G>T XP_005263519.1:p.Ter657Leu
XM_005263463.2:c.1724G>T XP_005263520.1:p.Ter575Leu
XM_005263463.4:c.1724G>T XP_005263520.1:p.Ter575Leu
XM_011541495.1:c.2090G>T XP_011539797.1:p.Ter697Leu
XM_011541495.3:c.2090G>T XP_011539797.1:p.Ter697Leu
XM_011541496.1:c.1911G>T XP_011539798.1:p.Met637Ile
XM_011541496.3:c.1911G>T XP_011539798.1:p.Met637Ile
XM_017001328.2:c.1943G>T XP_016856817.1:p.Ter648Leu
XM_024447198.1:c.1724G>T XP_024302966.1:p.Ter575Leu
XR_002956640.1:n.2889G>T