Canonical Allele Identifier: CA3408857

Gene: AFF4

Linked Data

• ClinVar Variation Id: 2502245
• ClinVar RCV Id: RCV003228663 ; RCV004285626 ; RCV003410311
• dbSNP Id: rs779261547
• ExAC: 5:132224847 A / T
• gnomAD v2: 5-132224847-A-T
• gnomAD v3: 5-132889155-A-T
• gnomAD v4: 5-132889155-A-T
• MyVariant Identifiers: chr5:g.132224847A>T (hg19) ; chr5:g.132889155A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132889155A>T , CM000667.2:g.132889155A>T	GRCh38
NC_000005.9:g.132224847A>T , CM000667.1:g.132224847A>T	GRCh37
NC_000005.8:g.132252746A>T	NCBI36
NG_030340.1:g.79508T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265343.10:c.2656T>A MANE Select	ENSP00000265343.5:p.Ser886Thr
ENST00000265343.9:c.2656T>A	ENSP00000265343.5:p.Ser886Thr
NM_014423.3:c.2656T>A	NP_055238.1:p.Ser886Thr
XM_005271963.3:c.2656T>A	XP_005272020.1:p.Ser886Thr
XM_005271964.3:c.1522T>A	XP_005272021.1:p.Ser508Thr
XM_006714587.2:c.2569T>A	XP_006714650.1:p.Ser857Thr
XM_005271963.5:c.2656T>A	XP_005272020.1:p.Ser886Thr
XM_005271964.4:c.1522T>A	XP_005272021.1:p.Ser508Thr
XM_006714587.4:c.2569T>A	XP_006714650.1:p.Ser857Thr
NM_014423.4:c.2656T>A MANE Select	NP_055238.1:p.Ser886Thr