Canonical Allele Identifier: CA9999085

Gene: SCAF4

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31671760C>T , CM000683.2:g.31671760C>T	GRCh38
NC_000021.8:g.33044073C>T , CM000683.1:g.33044073C>T	GRCh37
NC_000021.7:g.31965944C>T	NCBI36
NG_047173.1:g.65359G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020706.2:c.3083G>A MANE Select	NP_065757.1:p.Arg1028His
ENST00000286835.12:c.3083G>A MANE Select	ENSP00000286835.7:p.Arg1028His
NM_001145444.1:c.3038G>A	NP_001138916.1:p.Arg1013His
NM_001145445.1:c.3017G>A	NP_001138917.1:p.Arg1006His
ENST00000286835.11:c.3083G>A	ENSP00000286835.7:p.Arg1028His
ENST00000399804.5:c.3017G>A	ENSP00000382703.1:p.Arg1006His
ENST00000434667.3:c.3038G>A	ENSP00000402377.2:p.Arg1013His
XM_005261017.1:c.2906G>A	XP_005261074.1:p.Arg969His
XM_005261017.3:c.2906G>A	XP_005261074.1:p.Arg969His
XM_006724035.1:c.3071G>A	XP_006724098.1:p.Arg1024His
XM_006724035.3:c.3071G>A	XP_006724098.1:p.Arg1024His
XM_006724036.1:c.3005G>A	XP_006724099.1:p.Arg1002His
XM_006724036.3:c.3005G>A	XP_006724099.1:p.Arg1002His
XM_017028415.2:c.3080G>A	XP_016883904.1:p.Arg1027His
XM_017028416.2:c.3014G>A	XP_016883905.1:p.Arg1005His
XM_017028417.1:c.2840G>A	XP_016883906.1:p.Arg947His