Canonical Allele Identifier: CA563058194

Gene: AFF4

Linked Data

• dbSNP Id: rs1217845547
• gnomAD v2: 5-132227791-C-T
• gnomAD v4: 5-132892099-C-T
• MyVariant Identifiers: chr5:g.132227791C>T (hg19) ; chr5:g.132892099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132892099C>T , CM000667.2:g.132892099C>T	GRCh38
NC_000005.9:g.132227791C>T , CM000667.1:g.132227791C>T	GRCh37
NC_000005.8:g.132255690C>T	NCBI36
NG_030340.1:g.76564G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265343.10:c.2637+65G>A MANE Select	ENSP00000265343.5:n.2637+65G>A
ENST00000265343.9:c.2637+65G>A	ENSP00000265343.5:n.2637+65G>A
ENST00000378595.7:c.2702G>A	ENSP00000367858.3:p.Ter901=
NM_014423.3:c.2637+65G>A	NP_055238.1:n.2637+65G>A
XM_005271963.3:c.2637+65G>A	XP_005272020.1:n.2637+65G>A
XM_005271964.3:c.1503+65G>A	XP_005272021.1:n.1503+65G>A
XM_006714587.2:c.2550+65G>A	XP_006714650.1:n.2550+65G>A
XM_005271963.5:c.2637+65G>A	XP_005272020.1:n.2637+65G>A
XM_005271964.4:c.1503+65G>A	XP_005272021.1:n.1503+65G>A
XM_006714587.4:c.2550+65G>A	XP_006714650.1:n.2550+65G>A
NM_014423.4:c.2637+65G>A MANE Select	NP_055238.1:n.2637+65G>A