Canonical Allele Identifier: CA595173

Gene: MTHFR

Linked Data

• dbSNP Id: rs776862280
• ExAC: 1:11850883 T / TGTCGTG
• gnomAD v2: 1-11850883-T-TGTCGTG
• MyVariant Identifiers: chr1:g.11850883_11850884insGTCGTG (hg19) ; chr1:g.11790826_11790827insGTCGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790827_11790828insTCGTGG , CM000663.2:g.11790827_11790828insTCGTGG	GRCh38
NC_000001.10:g.11850884_11850885insTCGTGG , CM000663.1:g.11850884_11850885insTCGTGG	GRCh37
NC_000001.9:g.11773471_11773472insTCGTGG	NCBI36
NG_013351.1:g.20277_20278insCACGAC , LRG_726:g.20277_20278insCACGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1947_1948insCACGAC	ENSP00000365770.1:p.Ile649_Ile650insHisAsp
ENST00000376590.9:c.1824_1825insCACGAC MANE Select	ENSP00000365775.3:p.Ile608_Ile609insHisAsp
ENST00000376592.6:c.1824_1825insCACGAC	ENSP00000365777.1:p.Ile608_Ile609insHisAsp
ENST00000423400.7:c.1944_1945insCACGAC	ENSP00000398908.3:p.Ile648_Ile649insHisAsp
ENST00000641407.1:c.1753-111_1753-110insCACGAC	ENSP00000493098.1:n.1753-111_1753-110insCACGAC
ENST00000641446.1:c.*283_*284insCACGAC	ENSP00000493262.1:n.*283_*284insCACGAC
ENST00000641747.1:c.*1336_*1337insCACGAC	ENSP00000493116.1:n.*1336_*1337insCACGAC
ENST00000641759.1:n.2193_2194insCACGAC
ENST00000641805.1:n.2270-111_2270-110insCACGAC
ENST00000641820.1:c.1089_1090insCACGAC	ENSP00000492937.1:p.Ile363_Ile364insHisAsp
ENST00000376583.7:c.1947_1948insCACGAC	ENSP00000365767.3:p.Ile649_Ile650insHisAsp
ENST00000376585.5:c.1947_1948insCACGAC	ENSP00000365770.1:p.Ile649_Ile650insHisAsp
ENST00000376590.7:c.1824_1825insCACGAC	ENSP00000365775.3:p.Ile608_Ile609insHisAsp
ENST00000376592.5:c.1824_1825insCACGAC	ENSP00000365777.1:p.Ile608_Ile609insHisAsp
NM_005957.4:c.1824_1825insCACGAC , LRG_726t1:c.1824_1825insCACGAC	NP_005948.3:p.Ile608_Ile609insHisAsp
XM_005263458.2:c.1947_1948insCACGAC	XP_005263515.1:p.Ile649_Ile650insHisAsp
XM_005263460.3:c.1824_1825insCACGAC	XP_005263517.1:p.Ile608_Ile609insHisAsp
XM_005263461.3:c.1824_1825insCACGAC	XP_005263518.1:p.Ile608_Ile609insHisAsp
XM_005263462.3:c.1824_1825insCACGAC	XP_005263519.1:p.Ile608_Ile609insHisAsp
XM_005263463.2:c.1578_1579insCACGAC	XP_005263520.1:p.Ile526_Ile527insHisAsp
XM_011541495.1:c.1944_1945insCACGAC	XP_011539797.1:p.Ile648_Ile649insHisAsp
XM_011541496.1:c.1876-111_1876-110insCACGAC	XP_011539798.1:n.1876-111_1876-110insCACGAC
NM_001330358.1:c.1947_1948insCACGAC	NP_001317287.1:p.Ile649_Ile650insHisAsp
XM_005263460.5:c.1824_1825insCACGAC	XP_005263517.1:p.Ile608_Ile609insHisAsp
XM_005263462.4:c.1824_1825insCACGAC	XP_005263519.1:p.Ile608_Ile609insHisAsp
XM_005263463.4:c.1578_1579insCACGAC	XP_005263520.1:p.Ile526_Ile527insHisAsp
XM_011541495.3:c.1944_1945insCACGAC	XP_011539797.1:p.Ile648_Ile649insHisAsp
XM_011541496.3:c.1876-111_1876-110insCACGAC	XP_011539798.1:n.1876-111_1876-110insCACGAC
XM_017001328.2:c.1876-79_1876-78insCACGAC	XP_016856817.1:n.1876-79_1876-78insCACGAC
XM_024447198.1:c.1578_1579insCACGAC	XP_024302966.1:p.Ile526_Ile527insHisAsp
XR_002956640.1:n.2854-111_2854-110insCACGAC
NM_005957.5:c.1824_1825insCACGAC MANE Select	NP_005948.3:p.Ile608_Ile609insHisAsp
NM_001330358.2:c.1947_1948insCACGAC	NP_001317287.1:p.Ile649_Ile650insHisAsp