Canonical Allele Identifier: CA2643299591

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11800627-G-GCCACCCTCTCCCATCCCACGGCCTTGGGGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11800629_11800630insACCCTCTCCCATCCCACGGCCTTGGGGCTCC , CM000663.2:g.11800629_11800630insACCCTCTCCCATCCCACGGCCTTGGGGCTCC	GRCh38
NC_000001.10:g.11860686_11860687insACCCTCTCCCATCCCACGGCCTTGGGGCTCC , CM000663.1:g.11860686_11860687insACCCTCTCCCATCCCACGGCCTTGGGGCTCC	GRCh37
NC_000001.9:g.11783273_11783274insACCCTCTCCCATCCCACGGCCTTGGGGCTCC	NCBI36
NG_013351.1:g.10476_10477insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG , LRG_726:g.10476_10477insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.476-306_476-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	ENSP00000365669.3:n.476-306_476-305insAGC...
ENST00000376585.6:c.599-306_599-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	ENSP00000365770.1:n.599-306_599-305insAGC...
ENST00000376590.9:c.476-306_476-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG MANE Select	ENSP00000365775.3:n.476-306_476-305insAGC...
ENST00000376592.6:c.476-306_476-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	ENSP00000365777.1:n.476-306_476-305insAGC...
ENST00000423400.7:c.596-306_596-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	ENSP00000398908.3:n.596-306_596-305insAGC...
ENST00000641407.1:c.476-306_476-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	ENSP00000493098.1:n.476-306_476-305insAGC...
ENST00000641437.1:n.1140_1141insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG
ENST00000641446.1:c.476-306_476-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	ENSP00000493262.1:n.476-306_476-305insAGC...
ENST00000641721.1:n.533-306_533-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG
ENST00000641747.1:c.237-306_237-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	ENSP00000493116.1:n.237-306_237-305insAGC...
ENST00000641759.1:n.611-306_611-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG
ENST00000641805.1:n.759-306_759-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG
ENST00000641909.1:n.1418_1419insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG
ENST00000376583.7:c.599-306_599-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	ENSP00000365767.3:n.599-306_599-305insAGC...
ENST00000376585.5:c.599-306_599-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	ENSP00000365770.1:n.599-306_599-305insAGC...
ENST00000376590.7:c.476-306_476-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	ENSP00000365775.3:n.476-306_476-305insAGC...
ENST00000376592.5:c.476-306_476-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	ENSP00000365777.1:n.476-306_476-305insAGC...
NM_005957.4:c.476-306_476-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG , LRG_726t1:c.476-306_476-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	NP_005948.3:n.476-306_476-305insAGCCCCAAG...
XM_005263458.2:c.599-306_599-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	XP_005263515.1:n.599-306_599-305insAGCCCC...
XM_005263460.3:c.476-306_476-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	XP_005263517.1:n.476-306_476-305insAGCCCC...
XM_005263461.3:c.476-306_476-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	XP_005263518.1:n.476-306_476-305insAGCCCC...
XM_005263462.3:c.476-306_476-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	XP_005263519.1:n.476-306_476-305insAGCCCC...
XM_005263463.2:c.230-306_230-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	XP_005263520.1:n.230-306_230-305insAGCCCC...
XM_011541495.1:c.596-306_596-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	XP_011539797.1:n.596-306_596-305insAGCCCC...
XM_011541496.1:c.599-306_599-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	XP_011539798.1:n.599-306_599-305insAGCCCC...
NM_001330358.1:c.599-306_599-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	NP_001317287.1:n.599-306_599-305insAGCCCC...
XM_005263460.5:c.476-306_476-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	XP_005263517.1:n.476-306_476-305insAGCCCC...
XM_005263462.4:c.476-306_476-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	XP_005263519.1:n.476-306_476-305insAGCCCC...
XM_005263463.4:c.230-306_230-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	XP_005263520.1:n.230-306_230-305insAGCCCC...
XM_011541495.3:c.596-306_596-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	XP_011539797.1:n.596-306_596-305insAGCCCC...
XM_011541496.3:c.599-306_599-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	XP_011539798.1:n.599-306_599-305insAGCCCC...
XM_017001328.2:c.599-306_599-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	XP_016856817.1:n.599-306_599-305insAGCCCC...
XM_024447198.1:c.230-306_230-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	XP_024302966.1:n.230-306_230-305insAGCCCC...
XR_002956640.1:n.1343-306_1343-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG
NM_005957.5:c.476-306_476-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG MANE Select	NP_005948.3:n.476-306_476-305insAGCCCCAAG...
NM_001330358.2:c.599-306_599-305insAGCCCCAAGGCCGTGGGATGGGAGAGGGTGG	NP_001317287.1:n.599-306_599-305insAGCCCC...