Canonical Allele Identifier: CA3408759

Gene: AFF4

Linked Data

• dbSNP Id: rs758160342
• ExAC: 5:132222088 A / C
• gnomAD v2: 5-132222088-A-C
• gnomAD v4: 5-132886396-A-C
• MyVariant Identifiers: chr5:g.132222088A>C (hg19) ; chr5:g.132886396A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132886396A>C , CM000667.2:g.132886396A>C	GRCh38
NC_000005.9:g.132222088A>C , CM000667.1:g.132222088A>C	GRCh37
NC_000005.8:g.132249987A>C	NCBI36
NG_030340.1:g.82267T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265343.10:c.3013T>G MANE Select	ENSP00000265343.5:p.Cys1005Gly
ENST00000265343.9:c.3013T>G	ENSP00000265343.5:p.Cys1005Gly
NM_014423.3:c.3013T>G	NP_055238.1:p.Cys1005Gly
XM_005271963.3:c.3013T>G	XP_005272020.1:p.Cys1005Gly
XM_005271964.3:c.1879T>G	XP_005272021.1:p.Cys627Gly
XM_006714587.2:c.2926T>G	XP_006714650.1:p.Cys976Gly
XM_005271963.5:c.3013T>G	XP_005272020.1:p.Cys1005Gly
XM_005271964.4:c.1879T>G	XP_005272021.1:p.Cys627Gly
XM_006714587.4:c.2926T>G	XP_006714650.1:p.Cys976Gly
NM_014423.4:c.3013T>G MANE Select	NP_055238.1:p.Cys1005Gly