Canonical Allele Identifier: CA2643299279

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11790300-G-GTACAGCACTTTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790300_11790301insTACAGCACTTTGC , CM000663.2:g.11790300_11790301insTACAGCACTTTGC	GRCh38
NC_000001.10:g.11850357_11850358insTACAGCACTTTGC , CM000663.1:g.11850357_11850358insTACAGCACTTTGC	GRCh37
NC_000001.9:g.11772944_11772945insTACAGCACTTTGC	NCBI36
NG_013351.1:g.20803_20804insGCAAAGTGCTGTA , LRG_726:g.20803_20804insGCAAAGTGCTGTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*379_*380insGCAAAGTGCTGTA	ENSP00000365770.1:n.*379_*380insGCAAAGTGCTGTA
ENST00000376590.9:c.*379_*380insGCAAAGTGCTGTA MANE Select	ENSP00000365775.3:n.*379_*380insGCAAAGTGCTGTA
ENST00000376592.6:c.*379_*380insGCAAAGTGCTGTA	ENSP00000365777.1:n.*379_*380insGCAAAGTGCTGTA
ENST00000423400.7:c.*379_*380insGCAAAGTGCTGTA	ENSP00000398908.3:n.*379_*380insGCAAAGTGCTGTA
ENST00000641446.1:c.*809_*810insGCAAAGTGCTGTA	ENSP00000493262.1:n.*809_*810insGCAAAGTGCTGTA
ENST00000641747.1:c.*1862_*1863insGCAAAGTGCTGTA	ENSP00000493116.1:n.*1862_*1863insGCAAAGTGCTGTA
ENST00000641805.1:n.2685_2686insGCAAAGTGCTGTA
ENST00000376583.7:c.2473_2474insGCAAAGTGCTGTA	ENSP00000365767.3:n.2473_2474insGCAAAGTGCTGTA
ENST00000376585.5:c.*379_*380insGCAAAGTGCTGTA	ENSP00000365770.1:n.*379_*380insGCAAAGTGCTGTA
ENST00000376590.7:c.*379_*380insGCAAAGTGCTGTA	ENSP00000365775.3:n.*379_*380insGCAAAGTGCTGTA
ENST00000376592.5:c.*379_*380insGCAAAGTGCTGTA	ENSP00000365777.1:n.*379_*380insGCAAAGTGCTGTA
NM_005957.4:c.*379_*380insGCAAAGTGCTGTA , LRG_726t1:c.*379_*380insGCAAAGTGCTGTA	NP_005948.3:n.*379_*380insGCAAAGTGCTGTA
XM_005263458.2:c.*379_*380insGCAAAGTGCTGTA	XP_005263515.1:n.*379_*380insGCAAAGTGCTGTA
XM_005263460.3:c.*379_*380insGCAAAGTGCTGTA	XP_005263517.1:n.*379_*380insGCAAAGTGCTGTA
XM_005263461.3:c.*379_*380insGCAAAGTGCTGTA	XP_005263518.1:n.*379_*380insGCAAAGTGCTGTA
XM_005263462.3:c.*379_*380insGCAAAGTGCTGTA	XP_005263519.1:n.*379_*380insGCAAAGTGCTGTA
XM_005263463.2:c.*379_*380insGCAAAGTGCTGTA	XP_005263520.1:n.*379_*380insGCAAAGTGCTGTA
XM_011541495.1:c.*379_*380insGCAAAGTGCTGTA	XP_011539797.1:n.*379_*380insGCAAAGTGCTGTA
XM_011541496.1:c.*239_*240insGCAAAGTGCTGTA	XP_011539798.1:n.*239_*240insGCAAAGTGCTGTA
NM_001330358.1:c.*379_*380insGCAAAGTGCTGTA	NP_001317287.1:n.*379_*380insGCAAAGTGCTGTA
XM_005263460.5:c.*379_*380insGCAAAGTGCTGTA	XP_005263517.1:n.*379_*380insGCAAAGTGCTGTA
XM_005263462.4:c.*379_*380insGCAAAGTGCTGTA	XP_005263519.1:n.*379_*380insGCAAAGTGCTGTA
XM_005263463.4:c.*379_*380insGCAAAGTGCTGTA	XP_005263520.1:n.*379_*380insGCAAAGTGCTGTA
XM_011541495.3:c.*379_*380insGCAAAGTGCTGTA	XP_011539797.1:n.*379_*380insGCAAAGTGCTGTA
XM_011541496.3:c.*239_*240insGCAAAGTGCTGTA	XP_011539798.1:n.*239_*240insGCAAAGTGCTGTA
XM_024447198.1:c.*379_*380insGCAAAGTGCTGTA	XP_024302966.1:n.*379_*380insGCAAAGTGCTGTA
NM_005957.5:c.*379_*380insGCAAAGTGCTGTA MANE Select	NP_005948.3:n.*379_*380insGCAAAGTGCTGTA
NM_001330358.2:c.*379_*380insGCAAAGTGCTGTA	NP_001317287.1:n.*379_*380insGCAAAGTGCTGTA