Canonical Allele Identifier: CA17975267

Gene: MTHFR

Linked Data

• dbSNP Id: rs959180931
• gnomAD v4: 1-11802971-ATCT-A
• MyVariant Identifiers: chr1:g.11863029_11863031del (hg19) ; chr1:g.11802972_11802974del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11802975_11802977del , CM000663.2:g.11802975_11802977del	GRCh38
NC_000001.10:g.11863032_11863034del , CM000663.1:g.11863032_11863034del	GRCh37
NC_000001.9:g.11785619_11785621del	NCBI36
NG_008766.1:g.1826_1828del
NG_013351.1:g.8130_8132del , LRG_726:g.8130_8132del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.143_145del	ENSP00000365669.3:p.Lys48del
ENST00000376585.6:c.266_268del	ENSP00000365770.1:p.Lys89del
ENST00000376590.9:c.143_145del MANE Select	ENSP00000365775.3:p.Lys48del
ENST00000376592.6:c.143_145del	ENSP00000365777.1:p.Lys48del
ENST00000423400.7:c.263_265del	ENSP00000398908.3:p.Lys88del
ENST00000431243.6:n.924_926del
ENST00000641407.1:c.143_145del	ENSP00000493098.1:p.Lys48del
ENST00000641437.1:n.275_277del
ENST00000641446.1:c.143_145del	ENSP00000493262.1:p.Lys48del
ENST00000641721.1:n.200_202del
ENST00000641747.1:c.143_145del	ENSP00000493116.1:p.Lys48del
ENST00000641759.1:n.278_280del
ENST00000641805.1:n.426_428del
ENST00000641909.1:n.553_555del
ENST00000642002.1:n.372_374del
ENST00000376583.7:c.266_268del	ENSP00000365767.3:p.Lys89del
ENST00000376585.5:c.266_268del	ENSP00000365770.1:p.Lys89del
ENST00000376590.7:c.143_145del	ENSP00000365775.3:p.Lys48del
ENST00000376592.5:c.143_145del	ENSP00000365777.1:p.Lys48del
ENST00000418034.1:c.143_145del	ENSP00000405082.1:p.Lys48del
NM_005957.4:c.143_145del , LRG_726t1:c.143_145del	NP_005948.3:p.Lys48del
XM_005263458.2:c.266_268del	XP_005263515.1:p.Lys89del
XM_005263460.3:c.143_145del	XP_005263517.1:p.Lys48del
XM_005263461.3:c.143_145del	XP_005263518.1:p.Lys48del
XM_005263462.3:c.143_145del	XP_005263519.1:p.Lys48del
XM_005263463.2:c.-121_-119del	XP_005263520.1:n.-121_-119del
XM_011541495.1:c.263_265del	XP_011539797.1:p.Lys88del
XM_011541496.1:c.266_268del	XP_011539798.1:p.Lys89del
NM_001330358.1:c.266_268del	NP_001317287.1:p.Lys89del
XM_005263460.5:c.143_145del	XP_005263517.1:p.Lys48del
XM_005263462.4:c.143_145del	XP_005263519.1:p.Lys48del
XM_005263463.4:c.-121_-119del	XP_005263520.1:n.-121_-119del
XM_011541495.3:c.263_265del	XP_011539797.1:p.Lys88del
XM_011541496.3:c.266_268del	XP_011539798.1:p.Lys89del
XM_017001328.2:c.266_268del	XP_016856817.1:p.Lys89del
XM_024447198.1:c.-121_-119del	XP_024302966.1:n.-121_-119del
XR_002956640.1:n.1010_1012del
NM_005957.5:c.143_145del MANE Select	NP_005948.3:p.Lys48del
NM_001330358.2:c.266_268del	NP_001317287.1:p.Lys89del