Canonical Allele Identifier: CA3801009

Gene: MDFI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.41646178C>A , CM000668.2:g.41646178C>A	GRCh38
NC_000006.11:g.41613916C>A , CM000668.1:g.41613916C>A	GRCh37
NC_000006.10:g.41721894C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005586.4:c.129C>A MANE Select	NP_005577.1:p.His43Gln
ENST00000230321.11:c.129C>A MANE Select	ENSP00000230321.6:p.His43Gln
NM_001300804.1:c.129C>A	NP_001287733.1:p.His43Gln
NM_001300804.2:c.129C>A	NP_001287733.1:p.His43Gln
NM_001300805.1:c.77-3441C>A	NP_001287734.1:n.77-3441C>A
NM_001300805.2:c.77-3441C>A	NP_001287734.1:n.77-3441C>A
NM_001300806.1:c.129C>A	NP_001287735.1:p.His43Gln
NM_001300806.2:c.129C>A	NP_001287735.1:p.His43Gln
NM_005586.3:c.129C>A	NP_005577.1:p.His43Gln
ENST00000230321.10:c.129C>A	ENSP00000230321.6:p.His43Gln
ENST00000373050.8:c.77-3441C>A	ENSP00000362141.4:n.77-3441C>A
ENST00000373051.6:c.129C>A	ENSP00000362142.2:p.His43Gln
ENST00000419164.5:c.129C>A	ENSP00000393881.1:p.His43Gln
ENST00000419164.6:c.129C>A	ENSP00000393881.1:p.His43Gln
ENST00000432027.5:c.129C>A	ENSP00000413226.1:p.His43Gln
ENST00000435476.1:c.77-3441C>A	ENSP00000403587.1:n.77-3441C>A
ENST00000441667.5:c.129C>A	ENSP00000406600.1:p.His43Gln
ENST00000446650.1:c.129C>A	ENSP00000411829.1:p.His43Gln
XM_005249117.2:c.78C>A	XP_005249174.1:p.His26Gln
XM_005249117.3:c.78C>A	XP_005249174.1:p.His26Gln
XM_005249118.3:c.-52C>A	XP_005249175.1:n.-52C>A
XM_011514625.1:c.78C>A	XP_011512927.1:p.His26Gln
XM_011514625.2:c.78C>A	XP_011512927.1:p.His26Gln
XM_011514626.1:c.77-3441C>A	XP_011512928.1:n.77-3441C>A
XM_011514626.2:c.77-3441C>A	XP_011512928.1:n.77-3441C>A
XM_017010867.1:c.-52C>A	XP_016866356.1:n.-52C>A