Canonical Allele Identifier: CA595766

Gene: MTHFR

Linked Data

• dbSNP Id: rs767608041
• ExAC: 1:11863187 CT / C
• gnomAD v2: 1-11863187-CT-C
• gnomAD v3: 1-11803130-CT-C
• gnomAD v4: 1-11803130-CT-C
• MyVariant Identifiers: chr1:g.11863188del (hg19) ; chr1:g.11803131del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11803131del , CM000663.2:g.11803131del	GRCh38
NC_000001.10:g.11863188del , CM000663.1:g.11863188del	GRCh37
NC_000001.9:g.11785775del	NCBI36
NG_008766.1:g.1982del
NG_013351.1:g.7973del , LRG_726:g.7973del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.-10-5del	ENSP00000365669.3:n.-10-5del
ENST00000376585.6:c.111-2del	ENSP00000365770.1:n.111-2del
ENST00000376590.9:c.-13-2del MANE Select	ENSP00000365775.3:n.-13-2del
ENST00000376592.6:c.-15del	ENSP00000365777.1:n.-15del
ENST00000423400.7:c.111-5del	ENSP00000398908.3:n.111-5del
ENST00000431243.6:n.769-2del
ENST00000641407.1:c.-15del	ENSP00000493098.1:n.-15del
ENST00000641437.1:n.120-2del
ENST00000641446.1:c.-13-2del	ENSP00000493262.1:n.-13-2del
ENST00000641721.1:n.45-2del
ENST00000641747.1:c.-13-2del	ENSP00000493116.1:n.-13-2del
ENST00000641759.1:n.123-2del
ENST00000641805.1:n.274-5del
ENST00000641909.1:n.396del
ENST00000642002.1:n.217-2del
ENST00000376486.2:c.-13-2del	ENSP00000365669.2:n.-13-2del
ENST00000376583.7:c.111-2del	ENSP00000365767.3:n.111-2del
ENST00000376585.5:c.111-2del	ENSP00000365770.1:n.111-2del
ENST00000376590.7:c.-13-2del	ENSP00000365775.3:n.-13-2del
ENST00000376592.5:c.-15del	ENSP00000365777.1:n.-15del
ENST00000413656.5:c.-13-2del	ENSP00000408307.1:n.-13-2del
ENST00000418034.1:c.-13-2del	ENSP00000405082.1:n.-13-2del
ENST00000423400.5:c.55del	ENSP00000398908.1:p.Ser19ValfsTer7
ENST00000431243.5:c.-13-2del	ENSP00000400460.1:n.-13-2del
NM_005957.4:c.-13-2del , LRG_726t1:c.-13-2del	NP_005948.3:n.-13-2del
XM_005263458.2:c.111-2del	XP_005263515.1:n.111-2del
XM_005263460.3:c.-13-2del	XP_005263517.1:n.-13-2del
XM_005263461.3:c.-10-5del	XP_005263518.1:n.-10-5del
XM_005263462.3:c.-10-5del	XP_005263519.1:n.-10-5del
XM_005263463.2:c.-276-2del	XP_005263520.1:n.-276-2del
XM_011541495.1:c.111-5del	XP_011539797.1:n.111-5del
XM_011541496.1:c.111-2del	XP_011539798.1:n.111-2del
NM_001330358.1:c.111-2del	NP_001317287.1:n.111-2del
XM_005263460.5:c.-13-2del	XP_005263517.1:n.-13-2del
XM_005263462.4:c.-10-5del	XP_005263519.1:n.-10-5del
XM_005263463.4:c.-276-2del	XP_005263520.1:n.-276-2del
XM_011541495.3:c.111-5del	XP_011539797.1:n.111-5del
XM_011541496.3:c.111-2del	XP_011539798.1:n.111-2del
XM_017001328.2:c.111-2del	XP_016856817.1:n.111-2del
XM_024447198.1:c.-276-2del	XP_024302966.1:n.-276-2del
XR_002956640.1:n.858-5del
NM_005957.5:c.-13-2del MANE Select	NP_005948.3:n.-13-2del
NM_001330358.2:c.111-2del	NP_001317287.1:n.111-2del