Canonical Allele Identifier: CA371345994

Gene: MTFR1

Linked Data

• MyVariant Identifiers: chr8:g.66605957G>C (hg19) ; chr8:g.65693722G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.65693722G>C , CM000670.2:g.65693722G>C	GRCh38
NC_000008.10:g.66605957G>C , CM000670.1:g.66605957G>C	GRCh37
NC_000008.9:g.66768511G>C	NCBI36
NG_047112.1:g.54850G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262146.9:c.244G>C MANE Select	ENSP00000262146.4:p.Val82Leu
ENST00000262146.8:c.244G>C	ENSP00000262146.4:p.Val82Leu
ENST00000424808.6:n.370G>C
ENST00000458689.2:c.145G>C	ENSP00000391502.2:p.Val49Leu
ENST00000517944.5:n.363G>C
ENST00000518636.1:n.360G>C
ENST00000518800.5:c.117G>C
ENST00000522239.5:n.400G>C
ENST00000523170.5:n.446G>C
ENST00000523222.5:c.*107G>C	ENSP00000429450.1:n.*107G>C
NM_001145838.1:c.145G>C	NP_001139310.1:p.Val49Leu
NM_001145839.1:c.244G>C	NP_001139311.1:p.Val82Leu
NM_014637.3:c.244G>C	NP_055452.3:p.Val82Leu
XM_006716484.2:c.244G>C	XP_006716547.2:p.Val82Leu
XM_011517626.1:c.244G>C	XP_011515928.1:p.Val82Leu
XM_011517627.1:c.244G>C	XP_011515929.1:p.Val82Leu
XM_011517628.1:c.205G>C	XP_011515930.1:p.Val69Leu
XM_011517626.2:c.244G>C	XP_011515928.1:p.Val82Leu
XM_011517627.3:c.244G>C	XP_011515929.1:p.Val82Leu
XM_011517628.2:c.205G>C	XP_011515930.1:p.Val69Leu
NM_014637.4:c.244G>C MANE Select	NP_055452.3:p.Val82Leu
NM_001145839.2:c.244G>C	NP_001139311.1:p.Val82Leu