Canonical Allele Identifier: CA2643305363

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11805670-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11805670C>A , CM000663.2:g.11805670C>A	GRCh38
NC_000001.10:g.11865727C>A , CM000663.1:g.11865727C>A	GRCh37
NC_000001.9:g.11788314C>A	NCBI36
NG_008766.1:g.4521C>A
NG_013351.1:g.5434G>T , LRG_726:g.5434G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.-11+218G>T	ENSP00000365669.3:n.-11+218G>T
ENST00000376590.9:c.-14+218G>T MANE Select	ENSP00000365775.3:n.-14+218G>T
ENST00000641437.1:n.119+218G>T
ENST00000641446.1:c.-14+218G>T	ENSP00000493262.1:n.-14+218G>T
ENST00000641747.1:c.-14+218G>T	ENSP00000493116.1:n.-14+218G>T
ENST00000642002.1:n.216+218G>T
ENST00000376486.2:c.-14+218G>T	ENSP00000365669.2:n.-14+218G>T
ENST00000376590.7:c.-14+218G>T	ENSP00000365775.3:n.-14+218G>T
ENST00000418034.1:c.-337G>T	ENSP00000405082.1:n.-337G>T
NM_005957.4:c.-14+218G>T , LRG_726t1:c.-14+218G>T	NP_005948.3:n.-14+218G>T
XM_005263460.3:c.-337G>T	XP_005263517.1:n.-337G>T
XM_005263461.3:c.-334G>T	XP_005263518.1:n.-334G>T
XM_005263462.3:c.-11+218G>T	XP_005263519.1:n.-11+218G>T
XM_005263463.2:c.-277+218G>T	XP_005263520.1:n.-277+218G>T
XM_005263460.5:c.-337G>T	XP_005263517.1:n.-337G>T
XM_005263462.4:c.-11+218G>T	XP_005263519.1:n.-11+218G>T
XM_005263463.4:c.-277+218G>T	XP_005263520.1:n.-277+218G>T
NM_005957.5:c.-14+218G>T MANE Select	NP_005948.3:n.-14+218G>T