Canonical Allele Identifier: CA521455043

Gene: MTHFR

Linked Data

• dbSNP Id: rs1263501260
• gnomAD v2: 1-11854836-CT-C
• gnomAD v4: 1-11794779-CT-C
• MyVariant Identifiers: chr1:g.11854837del (hg19) ; chr1:g.11794780del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794782del , CM000663.2:g.11794782del	GRCh38
NC_000001.10:g.11854839del , CM000663.1:g.11854839del	GRCh37
NC_000001.9:g.11777426del	NCBI36
NG_013351.1:g.16324del , LRG_726:g.16324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1238del	ENSP00000365770.1:p.Lys413ArgfsTer29
ENST00000376590.9:c.1115del MANE Select	ENSP00000365775.3:p.Lys372ArgfsTer29
ENST00000376592.6:c.1115del	ENSP00000365777.1:p.Lys372ArgfsTer29
ENST00000423400.7:c.1235del	ENSP00000398908.3:p.Lys412ArgfsTer29
ENST00000641407.1:c.1115del	ENSP00000493098.1:p.Lys372ArgfsTer29
ENST00000641446.1:c.1115del	ENSP00000493262.1:p.Lys372ArgfsTer29
ENST00000641747.1:c.*627del	ENSP00000493116.1:n.*627del
ENST00000641759.1:n.1484del
ENST00000641805.1:n.1632del
ENST00000641820.1:c.380del	ENSP00000492937.1:p.Lys127ArgfsTer29
ENST00000376583.7:c.1238del	ENSP00000365767.3:p.Lys413ArgfsTer29
ENST00000376585.5:c.1238del	ENSP00000365770.1:p.Lys413ArgfsTer29
ENST00000376590.7:c.1115del	ENSP00000365775.3:p.Lys372ArgfsTer29
ENST00000376592.5:c.1115del	ENSP00000365777.1:p.Lys372ArgfsTer29
NM_005957.4:c.1115del , LRG_726t1:c.1115del	NP_005948.3:p.Lys372ArgfsTer29
XM_005263458.2:c.1238del	XP_005263515.1:p.Lys413ArgfsTer29
XM_005263460.3:c.1115del	XP_005263517.1:p.Lys372ArgfsTer29
XM_005263461.3:c.1115del	XP_005263518.1:p.Lys372ArgfsTer29
XM_005263462.3:c.1115del	XP_005263519.1:p.Lys372ArgfsTer29
XM_005263463.2:c.869del	XP_005263520.1:p.Lys290ArgfsTer29
XM_011541495.1:c.1235del	XP_011539797.1:p.Lys412ArgfsTer29
XM_011541496.1:c.1238del	XP_011539798.1:p.Lys413ArgfsTer29
NM_001330358.1:c.1238del	NP_001317287.1:p.Lys413ArgfsTer29
XM_005263460.5:c.1115del	XP_005263517.1:p.Lys372ArgfsTer29
XM_005263462.4:c.1115del	XP_005263519.1:p.Lys372ArgfsTer29
XM_005263463.4:c.869del	XP_005263520.1:p.Lys290ArgfsTer29
XM_011541495.3:c.1235del	XP_011539797.1:p.Lys412ArgfsTer29
XM_011541496.3:c.1238del	XP_011539798.1:p.Lys413ArgfsTer29
XM_017001328.2:c.1238del	XP_016856817.1:p.Lys413ArgfsTer29
XM_024447198.1:c.869del	XP_024302966.1:p.Lys290ArgfsTer29
XR_002956640.1:n.2216del
NM_005957.5:c.1115del MANE Select	NP_005948.3:p.Lys372ArgfsTer29
NM_001330358.2:c.1238del	NP_001317287.1:p.Lys413ArgfsTer29