Canonical Allele Identifier: CA1153789957

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790246_11790249delinsTCTA , CM000663.2:g.11790246_11790249delinsTCTA	GRCh38
NC_000001.10:g.11850303_11850306delinsTCTA , CM000663.1:g.11850303_11850306delinsTCTA	GRCh37
NC_000001.9:g.11772890_11772893delinsTCTA	NCBI36
NG_013351.1:g.20855_20858delinsTAGA , LRG_726:g.20855_20858delinsTAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*431_*434delinsTAGA	ENSP00000365770.1:n.*431_*434delinsTAGA
ENST00000376590.9:c.*431_*434delinsTAGA MANE Select	ENSP00000365775.3:n.*431_*434delinsTAGA
ENST00000376592.6:c.*431_*434delinsTAGA	ENSP00000365777.1:n.*431_*434delinsTAGA
ENST00000423400.7:c.*431_*434delinsTAGA	ENSP00000398908.3:n.*431_*434delinsTAGA
ENST00000641446.1:c.*861_*864delinsTAGA	ENSP00000493262.1:n.*861_*864delinsTAGA
ENST00000641747.1:c.*1914_*1917delinsTAGA	ENSP00000493116.1:n.*1914_*1917delinsTAGA...
ENST00000641805.1:n.2737_2740delinsTAGA
ENST00000376583.7:c.2525_2528delinsTAGA	ENSP00000365767.3:n.2525_2528delinsTAGA
ENST00000376585.5:c.*431_*434delinsTAGA	ENSP00000365770.1:n.*431_*434delinsTAGA
ENST00000376590.7:c.*431_*434delinsTAGA	ENSP00000365775.3:n.*431_*434delinsTAGA
ENST00000376592.5:c.*431_*434delinsTAGA	ENSP00000365777.1:n.*431_*434delinsTAGA
NM_005957.4:c.*431_*434delinsTAGA , LRG_726t1:c.*431_*434delinsTAGA	NP_005948.3:n.*431_*434delinsTAGA
XM_005263458.2:c.*431_*434delinsTAGA	XP_005263515.1:n.*431_*434delinsTAGA
XM_005263460.3:c.*431_*434delinsTAGA	XP_005263517.1:n.*431_*434delinsTAGA
XM_005263461.3:c.*431_*434delinsTAGA	XP_005263518.1:n.*431_*434delinsTAGA
XM_005263462.3:c.*431_*434delinsTAGA	XP_005263519.1:n.*431_*434delinsTAGA
XM_005263463.2:c.*431_*434delinsTAGA	XP_005263520.1:n.*431_*434delinsTAGA
XM_011541495.1:c.*431_*434delinsTAGA	XP_011539797.1:n.*431_*434delinsTAGA
XM_011541496.1:c.*291_*294delinsTAGA	XP_011539798.1:n.*291_*294delinsTAGA
NM_001330358.1:c.*431_*434delinsTAGA	NP_001317287.1:n.*431_*434delinsTAGA
XM_005263460.5:c.*431_*434delinsTAGA	XP_005263517.1:n.*431_*434delinsTAGA
XM_005263462.4:c.*431_*434delinsTAGA	XP_005263519.1:n.*431_*434delinsTAGA
XM_005263463.4:c.*431_*434delinsTAGA	XP_005263520.1:n.*431_*434delinsTAGA
XM_011541495.3:c.*431_*434delinsTAGA	XP_011539797.1:n.*431_*434delinsTAGA
XM_011541496.3:c.*291_*294delinsTAGA	XP_011539798.1:n.*291_*294delinsTAGA
XM_024447198.1:c.*431_*434delinsTAGA	XP_024302966.1:n.*431_*434delinsTAGA
NM_005957.5:c.*431_*434delinsTAGA MANE Select	NP_005948.3:n.*431_*434delinsTAGA
NM_001330358.2:c.*431_*434delinsTAGA	NP_001317287.1:n.*431_*434delinsTAGA