Canonical Allele Identifier: CA130605

Gene: MFF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227330777C>T , CM000664.2:g.227330777C>T	GRCh38
NC_000002.11:g.228195493C>T , CM000664.1:g.228195493C>T	GRCh37
NC_000002.10:g.227903737C>T	NCBI36
NG_033153.1:g.10627C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001277062.2:c.112C>T MANE Select	NP_001263991.1:p.Gln38Ter
ENST00000304593.14:c.112C>T MANE Select	ENSP00000304898.10:p.Gln38Ter
NM_001277061.1:c.190C>T	NP_001263990.1:p.Gln64Ter
NM_001277061.2:c.190C>T	NP_001263990.1:p.Gln64Ter
NM_001277062.1:c.112C>T	NP_001263991.1:p.Gln38Ter
NM_001277063.1:c.112C>T	NP_001263992.1:p.Gln38Ter
NM_001277063.2:c.112C>T	NP_001263992.1:p.Gln38Ter
NM_001277064.1:c.112C>T	NP_001263993.1:p.Gln38Ter
NM_001277064.2:c.112C>T	NP_001263993.1:p.Gln38Ter
NM_001277065.1:c.112C>T	NP_001263994.1:p.Gln38Ter
NM_001277065.2:c.112C>T	NP_001263994.1:p.Gln38Ter
NM_001277066.1:c.112C>T	NP_001263995.1:p.Gln38Ter
NM_001277066.2:c.112C>T	NP_001263995.1:p.Gln38Ter
NM_001277067.1:c.-35-4C>T	NP_001263996.1:n.-35-4C>T
NM_001277068.1:c.112C>T	NP_001263997.1:p.Gln38Ter
NM_020194.5:c.190C>T	NP_064579.3:p.Gln64Ter
NR_102266.1:n.278-1642C>T
NR_102266.2:n.178-1642C>T
ENST00000304593.13:c.112C>T	ENSP00000304898.9:p.Gln38Ter
ENST00000337110.11:c.112C>T	ENSP00000338412.7:p.Gln38Ter
ENST00000349901.11:c.112C>T	ENSP00000304134.9:p.Gln38Ter
ENST00000353339.7:c.190C>T	ENSP00000302037.4:p.Gln64Ter
ENST00000353339.8:c.190C>T	ENSP00000302037.4:p.Gln64Ter
ENST00000354503.10:c.112C>T	ENSP00000346498.6:p.Gln38Ter
ENST00000392059.5:c.-35-4C>T	ENSP00000375912.2:n.-35-4C>T
ENST00000392059.6:c.-35-4C>T	ENSP00000375912.2:n.-35-4C>T
ENST00000409565.5:c.112C>T	ENSP00000386964.1:p.Gln38Ter
ENST00000409616.5:c.112C>T	ENSP00000386641.1:p.Gln38Ter
ENST00000418961.5:c.112C>T	ENSP00000407547.1:p.Gln38Ter
ENST00000436791.1:n.77C>T
ENST00000443428.6:c.190C>T	ENSP00000391829.2:p.Gln64Ter
ENST00000452930.5:c.112C>T	ENSP00000415996.1:p.Gln38Ter
ENST00000456345.2:c.112C>T	ENSP00000415313.2:p.Gln38Ter
ENST00000460756.5:n.2263C>T
ENST00000470090.5:n.158-1642C>T
ENST00000476924.5:n.208-1642C>T
ENST00000489696.5:n.489C>T
ENST00000524634.5:c.-206-1642C>T	ENSP00000436289.1:n.-206-1642C>T
ENST00000525195.5:c.112C>T	ENSP00000436920.1:p.Gln38Ter
ENST00000530359.5:c.-206-1642C>T	ENSP00000431725.1:n.-206-1642C>T
ENST00000531278.5:c.-206-1642C>T	ENSP00000432447.1:n.-206-1642C>T
ENST00000534203.5:c.-206-1642C>T	ENSP00000435354.1:n.-206-1642C>T
ENST00000707109.1:c.112C>T	ENSP00000516738.1:p.Gln38Ter
ENST00000707110.1:c.190C>T	ENSP00000516739.1:p.Gln64Ter
ENST00000707111.1:c.112C>T	ENSP00000516740.1:p.Gln38Ter
XM_005246681.3:c.190C>T	XP_005246738.1:p.Gln64Ter
XM_005246681.4:c.190C>T	XP_005246738.1:p.Gln64Ter
XM_005246682.1:c.190C>T	XP_005246739.1:p.Gln64Ter
XM_005246682.2:c.190C>T	XP_005246739.1:p.Gln64Ter
XM_005246683.1:c.112C>T	XP_005246740.1:p.Gln38Ter
XM_005246683.2:c.112C>T	XP_005246740.1:p.Gln38Ter
XM_005246684.1:c.190C>T	XP_005246741.1:p.Gln64Ter
XM_005246684.2:c.190C>T	XP_005246741.1:p.Gln64Ter
XM_005246685.3:c.190C>T	XP_005246742.1:p.Gln64Ter
XM_005246685.4:c.190C>T	XP_005246742.1:p.Gln64Ter
XM_005246686.3:c.190C>T	XP_005246743.1:p.Gln64Ter
XM_005246686.4:c.190C>T	XP_005246743.1:p.Gln64Ter
XM_005246687.3:c.190C>T	XP_005246744.1:p.Gln64Ter
XM_005246687.4:c.190C>T	XP_005246744.1:p.Gln64Ter
XM_005246688.1:c.190C>T	XP_005246745.1:p.Gln64Ter
XM_005246688.2:c.190C>T	XP_005246745.1:p.Gln64Ter
XM_006712637.1:c.112C>T	XP_006712700.1:p.Gln38Ter
XM_006712637.2:c.112C>T	XP_006712700.1:p.Gln38Ter
XM_006712638.1:c.112C>T	XP_006712701.1:p.Gln38Ter
XM_006712638.2:c.112C>T	XP_006712701.1:p.Gln38Ter
XM_006712639.2:c.112C>T	XP_006712702.1:p.Gln38Ter
XM_006712639.3:c.112C>T	XP_006712702.1:p.Gln38Ter
XM_011511500.1:c.190C>T	XP_011509802.1:p.Gln64Ter
XM_011511501.1:c.112C>T	XP_011509803.1:p.Gln38Ter
XM_011511502.1:c.-206-1642C>T	XP_011509804.1:n.-206-1642C>T
XM_017004512.1:c.190C>T	XP_016860001.1:p.Gln64Ter
XM_017004513.2:c.112C>T	XP_016860002.1:p.Gln38Ter
XM_017004514.2:c.112C>T	XP_016860003.1:p.Gln38Ter
XM_017004515.2:c.112C>T	XP_016860004.1:p.Gln38Ter
XM_024453008.1:c.112C>T	XP_024308776.1:p.Gln38Ter
XM_024453009.1:c.190C>T	XP_024308777.1:p.Gln64Ter