Canonical Allele Identifier: CA10606264

Gene: SALL4

Linked Data

• ClinVar Variation Id: 288911
• ClinVar RCV Id: RCV000352694
• dbSNP Id: rs886044039
• gnomAD v2: 20-50406636-C-T
• gnomAD v3: 20-51790097-C-T
• gnomAD v4: 20-51790097-C-T
• MyVariant Identifiers: chr20:g.50406636C>T (hg19) ; chr20:g.51790097C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51790097C>T , CM000682.2:g.51790097C>T	GRCh38
NC_000020.10:g.50406636C>T , CM000682.1:g.50406636C>T	GRCh37
NC_000020.9:g.49840043C>T	NCBI36
NG_008000.1:g.17413G>A , LRG_675:g.17413G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000217086.9:c.2386G>A MANE Select	ENSP00000217086.4:p.Glu796Lys
ENST00000217086.8:c.2386G>A	ENSP00000217086.4:p.Glu796Lys
ENST00000371539.7:c.131-956G>A	ENSP00000360594.3:n.131-956G>A
ENST00000395997.3:c.1151-956G>A	ENSP00000379319.3:n.1151-956G>A
NM_020436.3:c.2386G>A , LRG_675t1:c.2386G>A	NP_065169.1:p.Glu796Lys
XM_005260467.2:c.2080G>A	XP_005260524.1:p.Glu694Lys
XM_006723834.2:c.2080G>A	XP_006723897.1:p.Glu694Lys
XM_011528919.1:c.2260G>A	XP_011527221.1:p.Glu754Lys
XM_011528920.1:c.2080G>A	XP_011527222.1:p.Glu694Lys
XM_011528921.1:c.2080G>A	XP_011527223.1:p.Glu694Lys
XM_011528922.1:c.2080G>A	XP_011527224.1:p.Glu694Lys
XM_011528923.1:c.1151-956G>A	XP_011527225.1:n.1151-956G>A
NM_001318031.1:c.1151-956G>A	NP_001304960.1:n.1151-956G>A
NM_020436.4:c.2386G>A	NP_065169.1:p.Glu796Lys
XM_005260467.4:c.2080G>A	XP_005260524.1:p.Glu694Lys
XM_011528921.2:c.2080G>A	XP_011527223.1:p.Glu694Lys
XM_011528922.2:c.2080G>A	XP_011527224.1:p.Glu694Lys
NM_020436.5:c.2386G>A MANE Select	NP_065169.1:p.Glu796Lys
NM_001318031.2:c.1151-956G>A	NP_001304960.1:n.1151-956G>A