Canonical Allele Identifier: CA886101370

Gene: MTHFR

Linked Data

• dbSNP Id: rs1263959048
• gnomAD v3: 1-11799961-GC-G
• gnomAD v4: 1-11799961-GC-G
• MyVariant Identifiers: chr1:g.11860019del (hg19) ; chr1:g.11799962del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11799963del , CM000663.2:g.11799963del	GRCh38
NC_000001.10:g.11860020del , CM000663.1:g.11860020del	GRCh37
NC_000001.9:g.11782607del	NCBI36
NG_013351.1:g.11142del , LRG_726:g.11142del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.586+250del	ENSP00000365669.3:n.586+250del
ENST00000376585.6:c.709+250del	ENSP00000365770.1:n.709+250del
ENST00000376590.9:c.586+250del MANE Select	ENSP00000365775.3:n.586+250del
ENST00000376592.6:c.586+250del	ENSP00000365777.1:n.586+250del
ENST00000423400.7:c.706+250del	ENSP00000398908.3:n.706+250del
ENST00000641407.1:c.586+250del	ENSP00000493098.1:n.586+250del
ENST00000641437.1:n.1806del
ENST00000641446.1:c.586+250del	ENSP00000493262.1:n.586+250del
ENST00000641721.1:n.643+250del
ENST00000641747.1:c.*98+250del	ENSP00000493116.1:n.*98+250del
ENST00000641759.1:n.721+250del
ENST00000641805.1:n.869+250del
ENST00000641909.1:n.2084del
ENST00000376583.7:c.709+250del	ENSP00000365767.3:n.709+250del
ENST00000376585.5:c.709+250del	ENSP00000365770.1:n.709+250del
ENST00000376590.7:c.586+250del	ENSP00000365775.3:n.586+250del
ENST00000376592.5:c.586+250del	ENSP00000365777.1:n.586+250del
NM_005957.4:c.586+250del , LRG_726t1:c.586+250del	NP_005948.3:n.586+250del
XM_005263458.2:c.709+250del	XP_005263515.1:n.709+250del
XM_005263460.3:c.586+250del	XP_005263517.1:n.586+250del
XM_005263461.3:c.586+250del	XP_005263518.1:n.586+250del
XM_005263462.3:c.586+250del	XP_005263519.1:n.586+250del
XM_005263463.2:c.340+250del	XP_005263520.1:n.340+250del
XM_011541495.1:c.706+250del	XP_011539797.1:n.706+250del
XM_011541496.1:c.709+250del	XP_011539798.1:n.709+250del
NM_001330358.1:c.709+250del	NP_001317287.1:n.709+250del
XM_005263460.5:c.586+250del	XP_005263517.1:n.586+250del
XM_005263462.4:c.586+250del	XP_005263519.1:n.586+250del
XM_005263463.4:c.340+250del	XP_005263520.1:n.340+250del
XM_011541495.3:c.706+250del	XP_011539797.1:n.706+250del
XM_011541496.3:c.709+250del	XP_011539798.1:n.709+250del
XM_017001328.2:c.709+250del	XP_016856817.1:n.709+250del
XM_024447198.1:c.340+250del	XP_024302966.1:n.340+250del
XR_002956640.1:n.1453+250del
NM_005957.5:c.586+250del MANE Select	NP_005948.3:n.586+250del
NM_001330358.2:c.709+250del	NP_001317287.1:n.709+250del