Canonical Allele Identifier: CA2643301018

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11790826-T-TGA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790827_11790828dup , CM000663.2:g.11790827_11790828dup	GRCh38
NC_000001.10:g.11850884_11850885dup , CM000663.1:g.11850884_11850885dup	GRCh37
NC_000001.9:g.11773471_11773472dup	NCBI36
NG_013351.1:g.20276_20277dup , LRG_726:g.20276_20277dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1946_1947dup	ENSP00000365770.1:p.Ile650SerfsTer?
ENST00000376590.9:c.1823_1824dup MANE Select	ENSP00000365775.3:p.Ile609SerfsTer?
ENST00000376592.6:c.1823_1824dup	ENSP00000365777.1:p.Ile609SerfsTer?
ENST00000423400.7:c.1943_1944dup	ENSP00000398908.3:p.Ile649SerfsTer?
ENST00000641407.1:c.1753-112_1753-111dup	ENSP00000493098.1:n.1753-112_1753-111dup
ENST00000641446.1:c.*282_*283dup	ENSP00000493262.1:n.*282_*283dup
ENST00000641747.1:c.*1335_*1336dup	ENSP00000493116.1:n.*1335_*1336dup
ENST00000641759.1:n.2192_2193dup
ENST00000641805.1:n.2270-112_2270-111dup
ENST00000641820.1:c.1088_1089dup	ENSP00000492937.1:p.Ile364SerfsTer?
ENST00000376583.7:c.1946_1947dup	ENSP00000365767.3:p.Ile650SerfsTer?
ENST00000376585.5:c.1946_1947dup	ENSP00000365770.1:p.Ile650SerfsTer?
ENST00000376590.7:c.1823_1824dup	ENSP00000365775.3:p.Ile609SerfsTer?
ENST00000376592.5:c.1823_1824dup	ENSP00000365777.1:p.Ile609SerfsTer?
NM_005957.4:c.1823_1824dup , LRG_726t1:c.1823_1824dup	NP_005948.3:p.Ile609SerfsTer?
XM_005263458.2:c.1946_1947dup	XP_005263515.1:p.Ile650SerfsTer?
XM_005263460.3:c.1823_1824dup	XP_005263517.1:p.Ile609SerfsTer?
XM_005263461.3:c.1823_1824dup	XP_005263518.1:p.Ile609SerfsTer?
XM_005263462.3:c.1823_1824dup	XP_005263519.1:p.Ile609SerfsTer?
XM_005263463.2:c.1577_1578dup	XP_005263520.1:p.Ile527SerfsTer?
XM_011541495.1:c.1943_1944dup	XP_011539797.1:p.Ile649SerfsTer?
XM_011541496.1:c.1876-112_1876-111dup	XP_011539798.1:n.1876-112_1876-111dup
NM_001330358.1:c.1946_1947dup	NP_001317287.1:p.Ile650SerfsTer?
XM_005263460.5:c.1823_1824dup	XP_005263517.1:p.Ile609SerfsTer?
XM_005263462.4:c.1823_1824dup	XP_005263519.1:p.Ile609SerfsTer?
XM_005263463.4:c.1577_1578dup	XP_005263520.1:p.Ile527SerfsTer?
XM_011541495.3:c.1943_1944dup	XP_011539797.1:p.Ile649SerfsTer?
XM_011541496.3:c.1876-112_1876-111dup	XP_011539798.1:n.1876-112_1876-111dup
XM_017001328.2:c.1876-80_1876-79dup	XP_016856817.1:n.1876-80_1876-79dup
XM_024447198.1:c.1577_1578dup	XP_024302966.1:p.Ile527SerfsTer?
XR_002956640.1:n.2854-112_2854-111dup
NM_005957.5:c.1823_1824dup MANE Select	NP_005948.3:p.Ile609SerfsTer?
NM_001330358.2:c.1946_1947dup	NP_001317287.1:p.Ile650SerfsTer?