Canonical Allele Identifier: CA3408915

Gene: AFF4

Linked Data

• dbSNP Id: rs763295786
• ExAC: 5:132228008 C / T
• gnomAD v2: 5-132228008-C-T
• gnomAD v4: 5-132892316-C-T
• MyVariant Identifiers: chr5:g.132228008C>T (hg19) ; chr5:g.132892316C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000265343.10:c.2485G>A MANE Select	ENSP00000265343.5:p.Gly829Ser
ENST00000265343.9:c.2485G>A	ENSP00000265343.5:p.Gly829Ser
ENST00000378595.7:c.2485G>A	ENSP00000367858.3:p.Gly829Ser
NM_014423.3:c.2485G>A	NP_055238.1:p.Gly829Ser
XM_005271963.3:c.2485G>A	XP_005272020.1:p.Gly829Ser
XM_005271964.3:c.1351G>A	XP_005272021.1:p.Gly451Ser
XM_006714587.2:c.2398G>A	XP_006714650.1:p.Gly800Ser
XM_005271963.5:c.2485G>A	XP_005272020.1:p.Gly829Ser
XM_005271964.4:c.1351G>A	XP_005272021.1:p.Gly451Ser
XM_006714587.4:c.2398G>A	XP_006714650.1:p.Gly800Ser
NM_014423.4:c.2485G>A MANE Select	NP_055238.1:p.Gly829Ser