Canonical Allele Identifier: CA360929193

Gene: AFF4

Linked Data

• ClinVar Variation Id: 1686387
• ClinVar RCV Id: RCV002246900 ; RCV003753218
• dbSNP Id: rs763295786
• gnomAD v4: 5-132892316-C-G
• MyVariant Identifiers: chr5:g.132228008C>G (hg19) ; chr5:g.132892316C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132892316C>G , CM000667.2:g.132892316C>G	GRCh38
NC_000005.9:g.132228008C>G , CM000667.1:g.132228008C>G	GRCh37
NC_000005.8:g.132255907C>G	NCBI36
NG_030340.1:g.76347G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265343.10:c.2485G>C MANE Select	ENSP00000265343.5:p.Gly829Arg
ENST00000265343.9:c.2485G>C	ENSP00000265343.5:p.Gly829Arg
ENST00000378595.7:c.2485G>C	ENSP00000367858.3:p.Gly829Arg
NM_014423.3:c.2485G>C	NP_055238.1:p.Gly829Arg
XM_005271963.3:c.2485G>C	XP_005272020.1:p.Gly829Arg
XM_005271964.3:c.1351G>C	XP_005272021.1:p.Gly451Arg
XM_006714587.2:c.2398G>C	XP_006714650.1:p.Gly800Arg
XM_005271963.5:c.2485G>C	XP_005272020.1:p.Gly829Arg
XM_005271964.4:c.1351G>C	XP_005272021.1:p.Gly451Arg
XM_006714587.4:c.2398G>C	XP_006714650.1:p.Gly800Arg
NM_014423.4:c.2485G>C MANE Select	NP_055238.1:p.Gly829Arg