Canonical Allele Identifier: CA2643300999

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11790818-G-GTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790820_11790822dup , CM000663.2:g.11790820_11790822dup	GRCh38
NC_000001.10:g.11850877_11850879dup , CM000663.1:g.11850877_11850879dup	GRCh37
NC_000001.9:g.11773464_11773466dup	NCBI36
NG_013351.1:g.20283_20285dup , LRG_726:g.20283_20285dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1953_1955dup	ENSP00000365770.1:p.Tyr652Ter
ENST00000376590.9:c.1830_1832dup MANE Select	ENSP00000365775.3:p.Tyr611Ter
ENST00000376592.6:c.1830_1832dup	ENSP00000365777.1:p.Tyr611Ter
ENST00000423400.7:c.1950_1952dup	ENSP00000398908.3:p.Tyr651Ter
ENST00000641407.1:c.1753-105_1753-103dup	ENSP00000493098.1:n.1753-105_1753-103dup
ENST00000641446.1:c.*289_*291dup	ENSP00000493262.1:n.*289_*291dup
ENST00000641747.1:c.*1342_*1344dup	ENSP00000493116.1:n.*1342_*1344dup
ENST00000641759.1:n.2199_2201dup
ENST00000641805.1:n.2270-105_2270-103dup
ENST00000641820.1:c.1095_1097dup	ENSP00000492937.1:p.Tyr366Ter
ENST00000376583.7:c.1953_1955dup	ENSP00000365767.3:p.Tyr652Ter
ENST00000376585.5:c.1953_1955dup	ENSP00000365770.1:p.Tyr652Ter
ENST00000376590.7:c.1830_1832dup	ENSP00000365775.3:p.Tyr611Ter
ENST00000376592.5:c.1830_1832dup	ENSP00000365777.1:p.Tyr611Ter
NM_005957.4:c.1830_1832dup , LRG_726t1:c.1830_1832dup	NP_005948.3:p.Tyr611Ter
XM_005263458.2:c.1953_1955dup	XP_005263515.1:p.Tyr652Ter
XM_005263460.3:c.1830_1832dup	XP_005263517.1:p.Tyr611Ter
XM_005263461.3:c.1830_1832dup	XP_005263518.1:p.Tyr611Ter
XM_005263462.3:c.1830_1832dup	XP_005263519.1:p.Tyr611Ter
XM_005263463.2:c.1584_1586dup	XP_005263520.1:p.Tyr529Ter
XM_011541495.1:c.1950_1952dup	XP_011539797.1:p.Tyr651Ter
XM_011541496.1:c.1876-105_1876-103dup	XP_011539798.1:n.1876-105_1876-103dup
NM_001330358.1:c.1953_1955dup	NP_001317287.1:p.Tyr652Ter
XM_005263460.5:c.1830_1832dup	XP_005263517.1:p.Tyr611Ter
XM_005263462.4:c.1830_1832dup	XP_005263519.1:p.Tyr611Ter
XM_005263463.4:c.1584_1586dup	XP_005263520.1:p.Tyr529Ter
XM_011541495.3:c.1950_1952dup	XP_011539797.1:p.Tyr651Ter
XM_011541496.3:c.1876-105_1876-103dup	XP_011539798.1:n.1876-105_1876-103dup
XM_017001328.2:c.1876-73_1876-71dup	XP_016856817.1:n.1876-73_1876-71dup
XM_024447198.1:c.1584_1586dup	XP_024302966.1:p.Tyr529Ter
XR_002956640.1:n.2854-105_2854-103dup
NM_005957.5:c.1830_1832dup MANE Select	NP_005948.3:p.Tyr611Ter
NM_001330358.2:c.1953_1955dup	NP_001317287.1:p.Tyr652Ter