Canonical Allele Identifier: CA521187224

Gene: MTHFR

Linked Data

• gnomAD v2: 1-11862008-AC-A
• gnomAD v3: 1-11801951-AC-A
• gnomAD v4: 1-11801951-AC-A
• MyVariant Identifiers: chr1:g.11862009del (hg19) ; chr1:g.11801952del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11801952del , CM000663.2:g.11801952del	GRCh38
NC_000001.10:g.11862009del , CM000663.1:g.11862009del	GRCh37
NC_000001.9:g.11784596del	NCBI36
NG_008766.1:g.803del
NG_013351.1:g.9152del , LRG_726:g.9152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.237-553del	ENSP00000365669.3:n.237-553del
ENST00000376585.6:c.360-553del	ENSP00000365770.1:n.360-553del
ENST00000376590.9:c.237-553del MANE Select	ENSP00000365775.3:n.237-553del
ENST00000376592.6:c.237-553del	ENSP00000365777.1:n.237-553del
ENST00000423400.7:c.357-553del	ENSP00000398908.3:n.357-553del
ENST00000431243.6:n.1018-536del
ENST00000641407.1:c.237-553del	ENSP00000493098.1:n.237-553del
ENST00000641437.1:n.369-553del
ENST00000641446.1:c.237-553del	ENSP00000493262.1:n.237-553del
ENST00000641721.1:n.294-553del
ENST00000641747.1:c.236+929del	ENSP00000493116.1:n.236+929del
ENST00000641759.1:n.372-553del
ENST00000641805.1:n.520-553del
ENST00000641909.1:n.647-553del
ENST00000642002.1:n.466-536del
ENST00000376583.7:c.360-553del	ENSP00000365767.3:n.360-553del
ENST00000376585.5:c.360-553del	ENSP00000365770.1:n.360-553del
ENST00000376590.7:c.237-553del	ENSP00000365775.3:n.237-553del
ENST00000376592.5:c.237-553del	ENSP00000365777.1:n.237-553del
ENST00000418034.1:c.237-553del	ENSP00000405082.1:n.237-553del
NM_005957.4:c.237-553del , LRG_726t1:c.237-553del	NP_005948.3:n.237-553del
XM_005263458.2:c.360-553del	XP_005263515.1:n.360-553del
XM_005263460.3:c.237-553del	XP_005263517.1:n.237-553del
XM_005263461.3:c.237-553del	XP_005263518.1:n.237-553del
XM_005263462.3:c.237-553del	XP_005263519.1:n.237-553del
XM_005263463.2:c.-27-536del	XP_005263520.1:n.-27-536del
XM_011541495.1:c.357-553del	XP_011539797.1:n.357-553del
XM_011541496.1:c.360-553del	XP_011539798.1:n.360-553del
NM_001330358.1:c.360-553del	NP_001317287.1:n.360-553del
XM_005263460.5:c.237-553del	XP_005263517.1:n.237-553del
XM_005263462.4:c.237-553del	XP_005263519.1:n.237-553del
XM_005263463.4:c.-27-536del	XP_005263520.1:n.-27-536del
XM_011541495.3:c.357-553del	XP_011539797.1:n.357-553del
XM_011541496.3:c.360-553del	XP_011539798.1:n.360-553del
XM_017001328.2:c.360-553del	XP_016856817.1:n.360-553del
XM_024447198.1:c.-27-536del	XP_024302966.1:n.-27-536del
XR_002956640.1:n.1104-553del
NM_005957.5:c.237-553del MANE Select	NP_005948.3:n.237-553del
NM_001330358.2:c.360-553del	NP_001317287.1:n.360-553del