Canonical Allele Identifier: CA1693496279

Gene: SP4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21464809A>T , CM000669.2:g.21464809A>T	GRCh38
NC_000007.13:g.21504427A>T , CM000669.1:g.21504427A>T	GRCh37
NC_000007.12:g.21470952A>T	NCBI36
NG_050737.1:g.41776A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003112.5:c.1679-12270A>T MANE Select	NP_003103.2:n.1679-12270A>T
ENST00000222584.8:c.1679-12270A>T MANE Select	ENSP00000222584.3:n.1679-12270A>T
NM_001326542.1:c.1628-12270A>T	NP_001313471.1:n.1628-12270A>T
NM_001326542.2:c.1628-12270A>T	NP_001313471.1:n.1628-12270A>T
NM_001326543.1:c.740-12270A>T	NP_001313472.1:n.740-12270A>T
NM_001326543.2:c.740-12270A>T	NP_001313472.1:n.740-12270A>T
NM_003112.3:c.1679-12270A>T	NP_003103.2:n.1679-12270A>T
NM_003112.4:c.1679-12270A>T	NP_003103.2:n.1679-12270A>T
ENST00000222584.7:c.1679-12270A>T	ENSP00000222584.3:n.1679-12270A>T
ENST00000432066.2:c.8-12270A>T	ENSP00000393623.2:n.8-12270A>T
ENST00000448246.1:c.124-12270A>T	ENSP00000390817.1:n.124-12270A>T
ENST00000649633.1:c.1628-12270A>T	ENSP00000496957.1:n.1628-12270A>T
XM_005249828.1:c.1628-12270A>T	XP_005249885.1:n.1628-12270A>T
XM_005249829.2:c.1679-12270A>T	XP_005249886.1:n.1679-12270A>T
XM_005249829.4:c.1679-12270A>T	XP_005249886.1:n.1679-12270A>T
XM_011515486.1:c.1679-12270A>T	XP_011513788.1:n.1679-12270A>T
XM_011515486.2:c.1679-12270A>T	XP_011513788.1:n.1679-12270A>T
XM_011515487.1:c.*15-12270A>T	XP_011513789.1:n.*15-12270A>T
XM_011515487.2:c.*15-12270A>T	XP_011513789.1:n.*15-12270A>T
XM_017012557.1:c.1679-12270A>T	XP_016868046.1:n.1679-12270A>T
XR_926945.1:n.1831-12270A>T