Canonical Allele Identifier: CA9912008

Gene: SALL4

Linked Data

• ClinVar Variation Id: 2747079
• ClinVar RCV Id: RCV003501950
• dbSNP Id: rs755288586
• ExAC: 20:50401201 G / A
• gnomAD v2: 20-50401201-G-A
• gnomAD v3: 20-51784662-G-A
• gnomAD v4: 20-51784662-G-A
• COSMIC: COSM271696
• MyVariant Identifiers: chr20:g.50401201G>A (hg19) ; chr20:g.50401201_50401202delinsAC (hg19) ; chr20:g.51784662G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51784662G>A , CM000682.2:g.51784662G>A	GRCh38
NC_000020.10:g.50401201G>A , CM000682.1:g.50401201G>A	GRCh37
NC_000020.9:g.49834608G>A	NCBI36
NG_008000.1:g.22848C>T , LRG_675:g.22848C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217086.9:c.2765C>T MANE Select	ENSP00000217086.4:p.Ala922Val
ENST00000217086.8:c.2765C>T	ENSP00000217086.4:p.Ala922Val
ENST00000371539.7:c.434C>T	ENSP00000360594.3:p.Ala145Val
ENST00000395997.3:c.1454C>T	ENSP00000379319.3:p.Ala485Val
NM_020436.3:c.2765C>T , LRG_675t1:c.2765C>T	NP_065169.1:p.Ala922Val
XM_005260467.2:c.2459C>T	XP_005260524.1:p.Ala820Val
XM_006723834.2:c.2459C>T	XP_006723897.1:p.Ala820Val
XM_011528919.1:c.2639C>T	XP_011527221.1:p.Ala880Val
XM_011528920.1:c.2459C>T	XP_011527222.1:p.Ala820Val
XM_011528921.1:c.2459C>T	XP_011527223.1:p.Ala820Val
XM_011528922.1:c.2459C>T	XP_011527224.1:p.Ala820Val
XM_011528923.1:c.1454C>T	XP_011527225.1:p.Ala485Val
NM_001318031.1:c.1454C>T	NP_001304960.1:p.Ala485Val
NM_020436.4:c.2765C>T	NP_065169.1:p.Ala922Val
XM_005260467.4:c.2459C>T	XP_005260524.1:p.Ala820Val
XM_011528921.2:c.2459C>T	XP_011527223.1:p.Ala820Val
XM_011528922.2:c.2459C>T	XP_011527224.1:p.Ala820Val
NM_020436.5:c.2765C>T MANE Select	NP_065169.1:p.Ala922Val
NM_001318031.2:c.1454C>T	NP_001304960.1:p.Ala485Val