Canonical Allele Identifier: CA446499388

Gene: AFF4

Linked Data

• dbSNP Id: rs1368038246
• gnomAD v2: 5-132269989-A-G
• gnomAD v4: 5-132934297-A-G
• MyVariant Identifiers: chr5:g.132269989A>G (hg19) ; chr5:g.132934297A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132934297A>G , CM000667.2:g.132934297A>G	GRCh38
NC_000005.9:g.132269989A>G , CM000667.1:g.132269989A>G	GRCh37
NC_000005.8:g.132297888A>G	NCBI36
NG_030340.1:g.34366T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265343.10:c.768T>C MANE Select	ENSP00000265343.5:p.Tyr256=
ENST00000265343.9:c.768T>C	ENSP00000265343.5:p.Tyr256=
ENST00000378595.7:c.768T>C	ENSP00000367858.3:p.Tyr256=
ENST00000465484.1:n.1027T>C
ENST00000491831.5:n.1028T>C
NM_014423.3:c.768T>C	NP_055238.1:p.Tyr256=
XM_005271963.3:c.768T>C	XP_005272020.1:p.Tyr256=
XM_006714587.2:c.768T>C	XP_006714650.1:p.Tyr256=
XM_005271963.5:c.768T>C	XP_005272020.1:p.Tyr256=
XM_006714587.4:c.768T>C	XP_006714650.1:p.Tyr256=
NM_014423.4:c.768T>C MANE Select	NP_055238.1:p.Tyr256=