Canonical Allele Identifier: CA804043333

Gene: AFF4

Linked Data

• dbSNP Id: rs1446102540
• gnomAD v4: 5-132892044-A-G
• MyVariant Identifiers: chr5:g.132227736A>G (hg19) ; chr5:g.132892044A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132892044A>G , CM000667.2:g.132892044A>G	GRCh38
NC_000005.9:g.132227736A>G , CM000667.1:g.132227736A>G	GRCh37
NC_000005.8:g.132255635A>G	NCBI36
NG_030340.1:g.76619T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265343.10:c.2637+120T>C MANE Select	ENSP00000265343.5:n.2637+120T>C
ENST00000265343.9:c.2637+120T>C	ENSP00000265343.5:n.2637+120T>C
ENST00000378595.7:c.*54T>C	ENSP00000367858.3:n.*54T>C
NM_014423.3:c.2637+120T>C	NP_055238.1:n.2637+120T>C
XM_005271963.3:c.2637+120T>C	XP_005272020.1:n.2637+120T>C
XM_005271964.3:c.1503+120T>C	XP_005272021.1:n.1503+120T>C
XM_006714587.2:c.2550+120T>C	XP_006714650.1:n.2550+120T>C
XM_005271963.5:c.2637+120T>C	XP_005272020.1:n.2637+120T>C
XM_005271964.4:c.1503+120T>C	XP_005272021.1:n.1503+120T>C
XM_006714587.4:c.2550+120T>C	XP_006714650.1:n.2550+120T>C
NM_014423.4:c.2637+120T>C MANE Select	NP_055238.1:n.2637+120T>C