Canonical Allele Identifier: CA1350628

Gene: NFASC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205001174T>C , CM000663.2:g.205001174T>C	GRCh38
NC_000001.10:g.204970302T>C , CM000663.1:g.204970302T>C	GRCh37
NC_000001.9:g.203236925T>C	NCBI36
NG_029938.1:g.177521T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001005388.3:c.3024T>C MANE Select	NP_001005388.2:p.Pro1008=
ENST00000339876.11:c.3024T>C MANE Select	ENSP00000344786.6:p.Pro1008=
NM_001160331.2:c.3137-8383T>C MANE Plus Clinical	NP_001153803.1:n.3137-8383T>C
ENST00000539706.6:c.3137-8383T>C MANE Plus Clinical	ENSP00000438614.2:n.3137-8383T>C
NM_001005388.2:c.3024T>C	NP_001005388.2:p.Pro1008=
NM_001160331.1:c.3137-8383T>C	NP_001153803.1:n.3137-8383T>C
NM_001160332.1:c.3092-8383T>C	NP_001153804.1:n.3092-8383T>C
NM_001160332.2:c.3092-8383T>C	NP_001153804.1:n.3092-8383T>C
NM_001365986.1:c.2756-8383T>C	NP_001352915.1:n.2756-8383T>C
NM_001378329.1:c.3345T>C	NP_001365258.1:p.Pro1115=
NM_015090.3:c.3077-8383T>C	NP_055905.2:n.3077-8383T>C
NM_015090.4:c.3077-8383T>C	NP_055905.2:n.3077-8383T>C
ENST00000339876.10:c.3024T>C	ENSP00000344786.6:p.Pro1008=
ENST00000360049.8:c.3077-8383T>C	ENSP00000353154.4:n.3077-8383T>C
ENST00000367173.7:c.2692-8383T>C
ENST00000401399.5:c.3024T>C	ENSP00000385637.1:p.Pro1008=
ENST00000404076.5:c.3041-8383T>C	ENSP00000385676.1:n.3041-8383T>C
ENST00000404907.5:c.3092-8383T>C	ENSP00000384061.1:n.3092-8383T>C
ENST00000404977.6:n.3550-8383T>C
ENST00000413225.5:c.163T>C
ENST00000425360.5:c.463-8383T>C
ENST00000430393.5:c.3065-8383T>C	ENSP00000415031.1:n.3065-8383T>C
ENST00000430393.6:c.3137-8383T>C	ENSP00000415031.2:n.3137-8383T>C
ENST00000430393.7:c.3092-8383T>C	ENSP00000415031.3:n.3092-8383T>C
ENST00000447819.1:c.223+3768T>C	ENSP00000416891.1:n.223+3768T>C
ENST00000495396.5:n.1041-1422T>C
ENST00000504476.5:c.*1768-8383T>C	ENSP00000422524.1:n.*1768-8383T>C
ENST00000513543.5:c.3077-8383T>C	ENSP00000425908.1:n.3077-8383T>C
ENST00000513543.6:c.3077-8383T>C	ENSP00000425908.1:n.3077-8383T>C
ENST00000539706.5:c.3092-8383T>C	ENSP00000438614.1:n.3092-8383T>C
XM_005244989.3:c.3368-8383T>C	XP_005245046.2:n.3368-8383T>C
XM_005244991.3:c.3323-8383T>C	XP_005245048.2:n.3323-8383T>C
XM_005244992.3:c.3308-8383T>C	XP_005245049.2:n.3308-8383T>C
XM_005244992.4:c.3308-8383T>C	XP_005245049.2:n.3308-8383T>C
XM_005244993.3:c.3272-8383T>C	XP_005245050.2:n.3272-8383T>C
XM_011509311.1:c.3381T>C	XP_011507613.1:p.Pro1127=
XM_011509311.2:c.3828T>C	XP_011507613.2:p.Pro1276=
XM_011509312.1:c.3609T>C	XP_011507614.1:p.Pro1203=
XM_011509313.1:c.3351T>C	XP_011507615.1:p.Pro1117=
XM_011509314.1:c.3558T>C	XP_011507616.1:p.Pro1186=
XM_011509315.1:c.3300T>C	XP_011507617.1:p.Pro1100=
XM_011509316.1:c.3396T>C	XP_011507618.1:p.Pro1132=
XM_011509317.1:c.3396T>C	XP_011507619.1:p.Pro1132=
XM_011509318.1:c.3684T>C	XP_011507620.1:p.Pro1228=
XM_011509318.2:c.3684T>C	XP_011507620.1:p.Pro1228=
XM_011509319.1:c.3345T>C	XP_011507621.1:p.Pro1115=
XM_011509320.1:c.3633T>C	XP_011507622.1:p.Pro1211=
XM_011509320.2:c.3633T>C	XP_011507622.1:p.Pro1211=
XM_011509321.1:c.3159T>C	XP_011507623.1:p.Pro1053=
XM_011509321.2:c.3606T>C	XP_011507623.2:p.Pro1202=
XM_011509322.1:c.3391+3768T>C	XP_011507624.1:n.3391+3768T>C
XM_011509322.2:c.3838+3768T>C	XP_011507624.2:n.3838+3768T>C
XM_011509323.1:c.3075T>C	XP_011507625.1:p.Pro1025=
XM_011509323.2:c.3522T>C	XP_011507625.2:p.Pro1174=
XM_011509324.1:c.3155-8383T>C	XP_011507626.1:n.3155-8383T>C
XM_011509325.1:c.3140-8383T>C	XP_011507627.1:n.3140-8383T>C
XM_011509325.2:c.3587-8383T>C	XP_011507627.2:n.3587-8383T>C
XM_011509326.1:c.2834-8383T>C	XP_011507628.1:n.2834-8383T>C
XM_011509326.2:c.3281-8383T>C	XP_011507628.2:n.3281-8383T>C
XM_011509327.1:c.2819-8383T>C	XP_011507629.1:n.2819-8383T>C
XM_011509327.2:c.3266-8383T>C	XP_011507629.2:n.3266-8383T>C
XM_011509328.1:c.2783-8383T>C	XP_011507630.1:n.2783-8383T>C
XM_011509328.2:c.3230-8383T>C	XP_011507630.2:n.3230-8383T>C
XM_017000733.1:c.3564T>C	XP_016856222.1:p.Pro1188=
XM_017000734.1:c.3513T>C	XP_016856223.1:p.Pro1171=
XM_017000738.1:c.3398-8383T>C	XP_016856227.1:n.3398-8383T>C
XM_017000739.1:c.3383-8383T>C	XP_016856228.1:n.3383-8383T>C
XM_017000740.1:c.3062-8383T>C	XP_016856229.1:n.3062-8383T>C
XM_017000741.1:c.2235T>C	XP_016856230.1:p.Pro745=
XM_017000742.2:c.1914T>C	XP_016856231.1:p.Pro638=
XM_024454283.1:c.3843T>C	XP_024310051.1:p.Pro1281=
XM_024454285.1:c.3798T>C	XP_024310053.1:p.Pro1266=
XM_024454288.1:c.3792T>C	XP_024310056.1:p.Pro1264=
XM_024454292.1:c.3747T>C	XP_024310060.1:p.Pro1249=
XM_024454296.1:c.3471T>C	XP_024310064.1:p.Pro1157=
XM_024454297.1:c.3602-8383T>C	XP_024310065.1:n.3602-8383T>C
XM_024454299.1:c.3557-8383T>C	XP_024310067.1:n.3557-8383T>C
XM_024454300.1:c.3024T>C	XP_024310068.1:p.Pro1008=
XR_921759.1:n.3599T>C