Canonical Allele Identifier: CA3408946

Gene: AFF4

Linked Data

• ClinVar Variation Id: 444661
• ClinVar RCV Id: RCV000513199 ; RCV001857324
• dbSNP Id: rs746518188
• ExAC: 5:132228759 T / C
• gnomAD v2: 5-132228759-T-C
• gnomAD v3: 5-132893067-T-C
• gnomAD v4: 5-132893067-T-C
• MyVariant Identifiers: chr5:g.132228759T>C (hg19) ; chr5:g.132893067T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132893067T>C , CM000667.2:g.132893067T>C	GRCh38
NC_000005.9:g.132228759T>C , CM000667.1:g.132228759T>C	GRCh37
NC_000005.8:g.132256658T>C	NCBI36
NG_030340.1:g.75596A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265343.10:c.2359A>G MANE Select	ENSP00000265343.5:p.Lys787Glu
ENST00000265343.9:c.2359A>G	ENSP00000265343.5:p.Lys787Glu
ENST00000378595.7:c.2359A>G	ENSP00000367858.3:p.Lys787Glu
NM_014423.3:c.2359A>G	NP_055238.1:p.Lys787Glu
XM_005271963.3:c.2359A>G	XP_005272020.1:p.Lys787Glu
XM_005271964.3:c.1225A>G	XP_005272021.1:p.Lys409Glu
XM_006714587.2:c.2272A>G	XP_006714650.1:p.Lys758Glu
XM_005271963.5:c.2359A>G	XP_005272020.1:p.Lys787Glu
XM_005271964.4:c.1225A>G	XP_005272021.1:p.Lys409Glu
XM_006714587.4:c.2272A>G	XP_006714650.1:p.Lys758Glu
NM_014423.4:c.2359A>G MANE Select	NP_055238.1:p.Lys787Glu