Canonical Allele Identifier: CA521455074

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 851183
• ClinVar RCV Id: RCV001055526
• dbSNP Id: rs1380686004
• gnomAD v2: 1-11855174-TC-T
• gnomAD v3: 1-11795117-TC-T
• gnomAD v4: 1-11795117-TC-T
• MyVariant Identifiers: chr1:g.11855175del (hg19) ; chr1:g.11795118del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795121del , CM000663.2:g.11795121del	GRCh38
NC_000001.10:g.11855178del , CM000663.1:g.11855178del	GRCh37
NC_000001.9:g.11777765del	NCBI36
NG_013351.1:g.15986del , LRG_726:g.15986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1134del	ENSP00000365770.1:p.Met379CysfsTer?
ENST00000376590.9:c.1011del MANE Select	ENSP00000365775.3:p.Met338CysfsTer?
ENST00000376592.6:c.1011del	ENSP00000365777.1:p.Met338CysfsTer?
ENST00000423400.7:c.1131del	ENSP00000398908.3:p.Met378CysfsTer?
ENST00000641407.1:c.1011del	ENSP00000493098.1:p.Met338CysfsTer?
ENST00000641446.1:c.1011del	ENSP00000493262.1:p.Met338CysfsTer?
ENST00000641721.1:n.874del
ENST00000641747.1:c.*523del	ENSP00000493116.1:n.*523del
ENST00000641759.1:n.1146del
ENST00000641805.1:n.1294del
ENST00000641820.1:c.276del	ENSP00000492937.1:p.Met93CysfsTer?
ENST00000376583.7:c.1134del	ENSP00000365767.3:p.Met379CysfsTer?
ENST00000376585.5:c.1134del	ENSP00000365770.1:p.Met379CysfsTer?
ENST00000376590.7:c.1011del	ENSP00000365775.3:p.Met338CysfsTer?
ENST00000376592.5:c.1011del	ENSP00000365777.1:p.Met338CysfsTer?
NM_005957.4:c.1011del , LRG_726t1:c.1011del	NP_005948.3:p.Met338CysfsTer?
XM_005263458.2:c.1134del	XP_005263515.1:p.Met379CysfsTer?
XM_005263460.3:c.1011del	XP_005263517.1:p.Met338CysfsTer?
XM_005263461.3:c.1011del	XP_005263518.1:p.Met338CysfsTer?
XM_005263462.3:c.1011del	XP_005263519.1:p.Met338CysfsTer?
XM_005263463.2:c.765del	XP_005263520.1:p.Met256CysfsTer?
XM_011541495.1:c.1131del	XP_011539797.1:p.Met378CysfsTer?
XM_011541496.1:c.1134del	XP_011539798.1:p.Met379CysfsTer?
NM_001330358.1:c.1134del	NP_001317287.1:p.Met379CysfsTer?
XM_005263460.5:c.1011del	XP_005263517.1:p.Met338CysfsTer?
XM_005263462.4:c.1011del	XP_005263519.1:p.Met338CysfsTer?
XM_005263463.4:c.765del	XP_005263520.1:p.Met256CysfsTer?
XM_011541495.3:c.1131del	XP_011539797.1:p.Met378CysfsTer?
XM_011541496.3:c.1134del	XP_011539798.1:p.Met379CysfsTer?
XM_017001328.2:c.1134del	XP_016856817.1:p.Met379CysfsTer?
XM_024447198.1:c.765del	XP_024302966.1:p.Met256CysfsTer?
XR_002956640.1:n.1878del
NM_005957.5:c.1011del MANE Select	NP_005948.3:p.Met338CysfsTer?
NM_001330358.2:c.1134del	NP_001317287.1:p.Met379CysfsTer?