Canonical Allele Identifier: CA360969044

Gene: AFF4

Linked Data

• ClinVar Variation Id: 542217
• ClinVar RCV Id: RCV000652609
• dbSNP Id: rs1554073525
• MyVariant Identifiers: chr5:g.132222000A>G (hg19) ; chr5:g.132886308A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132886308A>G , CM000667.2:g.132886308A>G	GRCh38
NC_000005.9:g.132222000A>G , CM000667.1:g.132222000A>G	GRCh37
NC_000005.8:g.132249899A>G	NCBI36
NG_030340.1:g.82355T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265343.10:c.3099+2T>C MANE Select	ENSP00000265343.5:n.3099+2T>C
ENST00000265343.9:c.3099+2T>C	ENSP00000265343.5:n.3099+2T>C
NM_014423.3:c.3099+2T>C	NP_055238.1:n.3099+2T>C
XM_005271963.3:c.3099+2T>C	XP_005272020.1:n.3099+2T>C
XM_005271964.3:c.1965+2T>C	XP_005272021.1:n.1965+2T>C
XM_006714587.2:c.3012+2T>C	XP_006714650.1:n.3012+2T>C
XM_005271963.5:c.3099+2T>C	XP_005272020.1:n.3099+2T>C
XM_005271964.4:c.1965+2T>C	XP_005272021.1:n.1965+2T>C
XM_006714587.4:c.3012+2T>C	XP_006714650.1:n.3012+2T>C
NM_014423.4:c.3099+2T>C MANE Select	NP_055238.1:n.3099+2T>C