Canonical Allele Identifier: CA3408897

Gene: AFF4

Linked Data

• ClinVar Variation Id: 1330909
• ClinVar RCV Id: RCV001802568
• dbSNP Id: rs752814432
• ExAC: 5:132227915 A / C
• gnomAD v2: 5-132227915-A-C
• gnomAD v3: 5-132892223-A-C
• gnomAD v4: 5-132892223-A-C
• MyVariant Identifiers: chr5:g.132227915A>C (hg19) ; chr5:g.132892223A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132892223A>C , CM000667.2:g.132892223A>C	GRCh38
NC_000005.9:g.132227915A>C , CM000667.1:g.132227915A>C	GRCh37
NC_000005.8:g.132255814A>C	NCBI36
NG_030340.1:g.76440T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265343.10:c.2578T>G MANE Select	ENSP00000265343.5:p.Ser860Ala
ENST00000265343.9:c.2578T>G	ENSP00000265343.5:p.Ser860Ala
ENST00000378595.7:c.2578T>G	ENSP00000367858.3:p.Ser860Ala
NM_014423.3:c.2578T>G	NP_055238.1:p.Ser860Ala
XM_005271963.3:c.2578T>G	XP_005272020.1:p.Ser860Ala
XM_005271964.3:c.1444T>G	XP_005272021.1:p.Ser482Ala
XM_006714587.2:c.2491T>G	XP_006714650.1:p.Ser831Ala
XM_005271963.5:c.2578T>G	XP_005272020.1:p.Ser860Ala
XM_005271964.4:c.1444T>G	XP_005272021.1:p.Ser482Ala
XM_006714587.4:c.2491T>G	XP_006714650.1:p.Ser831Ala
NM_014423.4:c.2578T>G MANE Select	NP_055238.1:p.Ser860Ala