Canonical Allele Identifier: CA3408914

Gene: AFF4

Linked Data

• ClinVar Variation Id: 493416
• ClinVar RCV Id: RCV000585403 ; RCV002530860
• dbSNP Id: rs374444704
• ExAC: 5:132228002 G / A
• gnomAD v2: 5-132228002-G-A
• gnomAD v3: 5-132892310-G-A
• gnomAD v4: 5-132892310-G-A
• MyVariant Identifiers: chr5:g.132228002G>A (hg19) ; chr5:g.132892310G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132892310G>A , CM000667.2:g.132892310G>A	GRCh38
NC_000005.9:g.132228002G>A , CM000667.1:g.132228002G>A	GRCh37
NC_000005.8:g.132255901G>A	NCBI36
NG_030340.1:g.76353C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265343.10:c.2491C>T MANE Select	ENSP00000265343.5:p.Arg831Trp
ENST00000265343.9:c.2491C>T	ENSP00000265343.5:p.Arg831Trp
ENST00000378595.7:c.2491C>T	ENSP00000367858.3:p.Arg831Trp
NM_014423.3:c.2491C>T	NP_055238.1:p.Arg831Trp
XM_005271963.3:c.2491C>T	XP_005272020.1:p.Arg831Trp
XM_005271964.3:c.1357C>T	XP_005272021.1:p.Arg453Trp
XM_006714587.2:c.2404C>T	XP_006714650.1:p.Arg802Trp
XM_005271963.5:c.2491C>T	XP_005272020.1:p.Arg831Trp
XM_005271964.4:c.1357C>T	XP_005272021.1:p.Arg453Trp
XM_006714587.4:c.2404C>T	XP_006714650.1:p.Arg802Trp
NM_014423.4:c.2491C>T MANE Select	NP_055238.1:p.Arg831Trp