Canonical Allele Identifier: CA2643305821

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11805763-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11805763_11805764insT , CM000663.2:g.11805763_11805764insT	GRCh38
NC_000001.10:g.11865820_11865821insT , CM000663.1:g.11865820_11865821insT	GRCh37
NC_000001.9:g.11788407_11788408insT	NCBI36
NG_008766.1:g.4614_4615insT
NG_013351.1:g.5340_5341insA , LRG_726:g.5340_5341insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.-11+124_-11+125insA	ENSP00000365669.3:n.-11+124_-11+125insA
ENST00000376590.9:c.-14+124_-14+125insA MANE Select	ENSP00000365775.3:n.-14+124_-14+125insA
ENST00000641437.1:n.119+124_119+125insA
ENST00000641446.1:c.-14+124_-14+125insA	ENSP00000493262.1:n.-14+124_-14+125insA
ENST00000641747.1:c.-14+124_-14+125insA	ENSP00000493116.1:n.-14+124_-14+125insA
ENST00000642002.1:n.216+124_216+125insA
ENST00000376486.2:c.-14+124_-14+125insA	ENSP00000365669.2:n.-14+124_-14+125insA
ENST00000376590.7:c.-14+124_-14+125insA	ENSP00000365775.3:n.-14+124_-14+125insA
ENST00000418034.1:c.-431_-430insA	ENSP00000405082.1:n.-431_-430insA
NM_005957.4:c.-14+124_-14+125insA , LRG_726t1:c.-14+124_-14+125insA	NP_005948.3:n.-14+124_-14+125insA
XM_005263460.3:c.-431_-430insA	XP_005263517.1:n.-431_-430insA
XM_005263461.3:c.-428_-427insA	XP_005263518.1:n.-428_-427insA
XM_005263462.3:c.-11+124_-11+125insA	XP_005263519.1:n.-11+124_-11+125insA
XM_005263463.2:c.-277+124_-277+125insA	XP_005263520.1:n.-277+124_-277+125insA
XM_005263460.5:c.-431_-430insA	XP_005263517.1:n.-431_-430insA
XM_005263462.4:c.-11+124_-11+125insA	XP_005263519.1:n.-11+124_-11+125insA
XM_005263463.4:c.-277+124_-277+125insA	XP_005263520.1:n.-277+124_-277+125insA
NM_005957.5:c.-14+124_-14+125insA MANE Select	NP_005948.3:n.-14+124_-14+125insA