Canonical Allele Identifier: CA127270232

Gene: AFF4

Linked Data

• dbSNP Id: rs908239478
• gnomAD v4: 5-132892385-C-T
• MyVariant Identifiers: chr5:g.132228077C>T (hg19) ; chr5:g.132892385C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132892385C>T , CM000667.2:g.132892385C>T	GRCh38
NC_000005.9:g.132228077C>T , CM000667.1:g.132228077C>T	GRCh37
NC_000005.8:g.132255976C>T	NCBI36
NG_030340.1:g.76278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265343.10:c.2416G>A MANE Select	ENSP00000265343.5:p.Ala806Thr
ENST00000265343.9:c.2416G>A	ENSP00000265343.5:p.Ala806Thr
ENST00000378595.7:c.2416G>A	ENSP00000367858.3:p.Ala806Thr
NM_014423.3:c.2416G>A	NP_055238.1:p.Ala806Thr
XM_005271963.3:c.2416G>A	XP_005272020.1:p.Ala806Thr
XM_005271964.3:c.1282G>A	XP_005272021.1:p.Ala428Thr
XM_006714587.2:c.2329G>A	XP_006714650.1:p.Ala777Thr
XM_005271963.5:c.2416G>A	XP_005272020.1:p.Ala806Thr
XM_005271964.4:c.1282G>A	XP_005272021.1:p.Ala428Thr
XM_006714587.4:c.2329G>A	XP_006714650.1:p.Ala777Thr
NM_014423.4:c.2416G>A MANE Select	NP_055238.1:p.Ala806Thr