Canonical Allele Identifier: CA360928582

Gene: AFF4

Linked Data

• dbSNP Id: rs1488744821
• gnomAD v2: 5-132227914-G-C
• gnomAD v4: 5-132892222-G-C
• MyVariant Identifiers: chr5:g.132227914G>C (hg19) ; chr5:g.132892222G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132892222G>C , CM000667.2:g.132892222G>C	GRCh38
NC_000005.9:g.132227914G>C , CM000667.1:g.132227914G>C	GRCh37
NC_000005.8:g.132255813G>C	NCBI36
NG_030340.1:g.76441C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265343.10:c.2579C>G MANE Select	ENSP00000265343.5:p.Ser860Cys
ENST00000265343.9:c.2579C>G	ENSP00000265343.5:p.Ser860Cys
ENST00000378595.7:c.2579C>G	ENSP00000367858.3:p.Ser860Cys
NM_014423.3:c.2579C>G	NP_055238.1:p.Ser860Cys
XM_005271963.3:c.2579C>G	XP_005272020.1:p.Ser860Cys
XM_005271964.3:c.1445C>G	XP_005272021.1:p.Ser482Cys
XM_006714587.2:c.2492C>G	XP_006714650.1:p.Ser831Cys
XM_005271963.5:c.2579C>G	XP_005272020.1:p.Ser860Cys
XM_005271964.4:c.1445C>G	XP_005272021.1:p.Ser482Cys
XM_006714587.4:c.2492C>G	XP_006714650.1:p.Ser831Cys
NM_014423.4:c.2579C>G MANE Select	NP_055238.1:p.Ser860Cys