Canonical Allele Identifier: CA127270039

Gene: AFF4

Linked Data

• dbSNP Id: rs1000860073
• gnomAD v3: 5-132892183-C-A
• gnomAD v4: 5-132892183-C-A
• MyVariant Identifiers: chr5:g.132227875C>A (hg19) ; chr5:g.132892183C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132892183C>A , CM000667.2:g.132892183C>A	GRCh38
NC_000005.9:g.132227875C>A , CM000667.1:g.132227875C>A	GRCh37
NC_000005.8:g.132255774C>A	NCBI36
NG_030340.1:g.76480G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265343.10:c.2618G>T MANE Select	ENSP00000265343.5:p.Ser873Ile
ENST00000265343.9:c.2618G>T	ENSP00000265343.5:p.Ser873Ile
ENST00000378595.7:c.2618G>T	ENSP00000367858.3:p.Ser873Ile
NM_014423.3:c.2618G>T	NP_055238.1:p.Ser873Ile
XM_005271963.3:c.2618G>T	XP_005272020.1:p.Ser873Ile
XM_005271964.3:c.1484G>T	XP_005272021.1:p.Ser495Ile
XM_006714587.2:c.2531G>T	XP_006714650.1:p.Ser844Ile
XM_005271963.5:c.2618G>T	XP_005272020.1:p.Ser873Ile
XM_005271964.4:c.1484G>T	XP_005272021.1:p.Ser495Ile
XM_006714587.4:c.2531G>T	XP_006714650.1:p.Ser844Ile
NM_014423.4:c.2618G>T MANE Select	NP_055238.1:p.Ser873Ile