Canonical Allele Identifier: CA886038814

Gene: MTHFR

Linked Data

• dbSNP Id: rs1491462478
• MyVariant Identifiers: chr1:g.11850503_11850504del (hg19) ; chr1:g.11790446_11790447del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790448_11790449del , CM000663.2:g.11790448_11790449del	GRCh38
NC_000001.10:g.11850505_11850506del , CM000663.1:g.11850505_11850506del	GRCh37
NC_000001.9:g.11773092_11773093del	NCBI36
NG_013351.1:g.20657_20658del , LRG_726:g.20657_20658del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.*233_*234del	ENSP00000365770.1:n.*233_*234del
ENST00000376590.9:c.*233_*234del MANE Select	ENSP00000365775.3:n.*233_*234del
ENST00000376592.6:c.*233_*234del	ENSP00000365777.1:n.*233_*234del
ENST00000423400.7:c.*233_*234del	ENSP00000398908.3:n.*233_*234del
ENST00000641407.1:c.*93_*94del	ENSP00000493098.1:n.*93_*94del
ENST00000641446.1:c.*663_*664del	ENSP00000493262.1:n.*663_*664del
ENST00000641747.1:c.*1716_*1717del	ENSP00000493116.1:n.*1716_*1717del
ENST00000641805.1:n.2539_2540del
ENST00000376583.7:c.2327_2328del	ENSP00000365767.3:n.2327_2328del
ENST00000376585.5:c.*233_*234del	ENSP00000365770.1:n.*233_*234del
ENST00000376590.7:c.*233_*234del	ENSP00000365775.3:n.*233_*234del
ENST00000376592.5:c.*233_*234del	ENSP00000365777.1:n.*233_*234del
NM_005957.4:c.*233_*234del , LRG_726t1:c.*233_*234del	NP_005948.3:n.*233_*234del
XM_005263458.2:c.*233_*234del	XP_005263515.1:n.*233_*234del
XM_005263460.3:c.*233_*234del	XP_005263517.1:n.*233_*234del
XM_005263461.3:c.*233_*234del	XP_005263518.1:n.*233_*234del
XM_005263462.3:c.*233_*234del	XP_005263519.1:n.*233_*234del
XM_005263463.2:c.*233_*234del	XP_005263520.1:n.*233_*234del
XM_011541495.1:c.*233_*234del	XP_011539797.1:n.*233_*234del
XM_011541496.1:c.*93_*94del	XP_011539798.1:n.*93_*94del
NM_001330358.1:c.*233_*234del	NP_001317287.1:n.*233_*234del
XM_005263460.5:c.*233_*234del	XP_005263517.1:n.*233_*234del
XM_005263462.4:c.*233_*234del	XP_005263519.1:n.*233_*234del
XM_005263463.4:c.*233_*234del	XP_005263520.1:n.*233_*234del
XM_011541495.3:c.*233_*234del	XP_011539797.1:n.*233_*234del
XM_011541496.3:c.*93_*94del	XP_011539798.1:n.*93_*94del
XM_024447198.1:c.*233_*234del	XP_024302966.1:n.*233_*234del
NM_005957.5:c.*233_*234del MANE Select	NP_005948.3:n.*233_*234del
NM_001330358.2:c.*233_*234del	NP_001317287.1:n.*233_*234del