Canonical Allele Identifier: CA730423091

Gene: NFASC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204939306C>T , CM000663.2:g.204939306C>T	GRCh38
NC_000001.10:g.204908434C>T , CM000663.1:g.204908434C>T	GRCh37
NC_000001.9:g.203175057C>T	NCBI36
NG_029938.1:g.115653C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001005388.3:c.-90-4920C>T MANE Select	NP_001005388.2:n.-90-4920C>T
ENST00000339876.11:c.-90-4920C>T MANE Select	ENSP00000344786.6:n.-90-4920C>T
NM_001160331.2:c.-90-4920C>T MANE Plus Clinical	NP_001153803.1:n.-90-4920C>T
ENST00000539706.6:c.-90-4920C>T MANE Plus Clinical	ENSP00000438614.2:n.-90-4920C>T
NM_001005388.2:c.-90-4920C>T	NP_001005388.2:n.-90-4920C>T
NM_001005389.1:c.-90-4920C>T	NP_001005389.2:n.-90-4920C>T
NM_001005389.2:c.-90-4920C>T	NP_001005389.2:n.-90-4920C>T
NM_001160332.1:c.-90-4920C>T	NP_001153804.1:n.-90-4920C>T
NM_001160332.2:c.-90-4920C>T	NP_001153804.1:n.-90-4920C>T
NM_001160333.1:c.-90-4920C>T	NP_001153805.1:n.-90-4920C>T
NM_001160333.2:c.-90-4920C>T	NP_001153805.1:n.-90-4920C>T
NM_001365986.1:c.-90-4920C>T	NP_001352915.1:n.-90-4920C>T
NM_001378329.1:c.-90-4920C>T	NP_001365258.1:n.-90-4920C>T
NM_001378330.1:c.-90-4920C>T	NP_001365259.1:n.-90-4920C>T
NM_001378331.1:c.-90-4920C>T	NP_001365260.1:n.-90-4920C>T
NM_015090.3:c.-90-4920C>T	NP_055905.2:n.-90-4920C>T
NM_015090.4:c.-90-4920C>T	NP_055905.2:n.-90-4920C>T
NR_165492.1:n.241-4920C>T
ENST00000339876.10:c.-90-4920C>T	ENSP00000344786.6:n.-90-4920C>T
ENST00000360049.8:c.-90-4920C>T	ENSP00000353154.4:n.-90-4920C>T
ENST00000401399.5:c.-90-4920C>T	ENSP00000385637.1:n.-90-4920C>T
ENST00000403080.5:c.-90-4920C>T	ENSP00000384875.1:n.-90-4920C>T
ENST00000404076.5:c.-90-4920C>T	ENSP00000385676.1:n.-90-4920C>T
ENST00000404977.6:n.242-4920C>T
ENST00000430393.6:c.-90-4920C>T	ENSP00000415031.2:n.-90-4920C>T
ENST00000430393.7:c.-90-4920C>T	ENSP00000415031.3:n.-90-4920C>T
ENST00000493914.5:n.207-4920C>T
ENST00000505079.5:c.-90-4920C>T	ENSP00000427586.1:n.-90-4920C>T
ENST00000513543.6:c.-90-4920C>T	ENSP00000425908.1:n.-90-4920C>T
ENST00000514644.5:n.319-4920C>T
ENST00000539706.5:c.-90-4920C>T	ENSP00000438614.1:n.-90-4920C>T
ENST00000680427.1:c.-90-4920C>T	ENSP00000506661.1:n.-90-4920C>T
XM_005244989.3:c.142-4920C>T	XP_005245046.2:n.142-4920C>T
XM_005244991.3:c.142-4920C>T	XP_005245048.2:n.142-4920C>T
XM_005244992.3:c.142-4920C>T	XP_005245049.2:n.142-4920C>T
XM_005244992.4:c.142-4920C>T	XP_005245049.2:n.142-4920C>T
XM_005244993.3:c.142-4920C>T	XP_005245050.2:n.142-4920C>T
XM_005244997.3:c.142-4920C>T	XP_005245054.2:n.142-4920C>T
XM_011509311.2:c.358-4920C>T	XP_011507613.2:n.358-4920C>T
XM_011509312.1:c.142-4920C>T	XP_011507614.1:n.142-4920C>T
XM_011509314.1:c.142-4920C>T	XP_011507616.1:n.142-4920C>T
XM_011509316.1:c.-90-4920C>T	XP_011507618.1:n.-90-4920C>T
XM_011509318.1:c.217-4920C>T	XP_011507620.1:n.217-4920C>T
XM_011509318.2:c.217-4920C>T	XP_011507620.1:n.217-4920C>T
XM_011509319.1:c.-90-4920C>T	XP_011507621.1:n.-90-4920C>T
XM_011509320.1:c.217-4920C>T	XP_011507622.1:n.217-4920C>T
XM_011509320.2:c.217-4920C>T	XP_011507622.1:n.217-4920C>T
XM_011509321.2:c.358-4920C>T	XP_011507623.2:n.358-4920C>T
XM_011509322.2:c.358-4920C>T	XP_011507624.2:n.358-4920C>T
XM_011509323.2:c.358-4920C>T	XP_011507625.2:n.358-4920C>T
XM_011509325.2:c.358-4920C>T	XP_011507627.2:n.358-4920C>T
XM_011509326.2:c.358-4920C>T	XP_011507628.2:n.358-4920C>T
XM_011509327.2:c.358-4920C>T	XP_011507629.2:n.358-4920C>T
XM_011509328.2:c.358-4920C>T	XP_011507630.2:n.358-4920C>T
XM_017000733.1:c.142-4920C>T	XP_016856222.1:n.142-4920C>T
XM_017000734.1:c.142-4920C>T	XP_016856223.1:n.142-4920C>T
XM_017000738.1:c.217-4920C>T	XP_016856227.1:n.217-4920C>T
XM_017000739.1:c.217-4920C>T	XP_016856228.1:n.217-4920C>T
XM_017000740.1:c.217-4920C>T	XP_016856229.1:n.217-4920C>T
XM_017000743.1:c.217-4920C>T	XP_016856232.1:n.217-4920C>T
XM_024454283.1:c.358-4920C>T	XP_024310051.1:n.358-4920C>T
XM_024454285.1:c.358-4920C>T	XP_024310053.1:n.358-4920C>T
XM_024454288.1:c.358-4920C>T	XP_024310056.1:n.358-4920C>T
XM_024454292.1:c.358-4920C>T	XP_024310060.1:n.358-4920C>T
XM_024454296.1:c.358-4920C>T	XP_024310064.1:n.358-4920C>T
XM_024454297.1:c.358-4920C>T	XP_024310065.1:n.358-4920C>T
XM_024454299.1:c.358-4920C>T	XP_024310067.1:n.358-4920C>T
XM_024454300.1:c.-90-4920C>T	XP_024310068.1:n.-90-4920C>T
XM_024454301.1:c.-90-4920C>T	XP_024310069.1:n.-90-4920C>T
XM_024454302.1:c.-90-4920C>T	XP_024310070.1:n.-90-4920C>T