Canonical Allele Identifier: CA360958248

Gene: AFF4

Linked Data

• ClinVar Variation Id: 1398040
• ClinVar RCV Id: RCV001912732
• dbSNP Id: rs2150098319
• MyVariant Identifiers: chr5:g.132269990T>C (hg19) ; chr5:g.132934298T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132934298T>C , CM000667.2:g.132934298T>C	GRCh38
NC_000005.9:g.132269990T>C , CM000667.1:g.132269990T>C	GRCh37
NC_000005.8:g.132297889T>C	NCBI36
NG_030340.1:g.34365A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265343.10:c.767A>G MANE Select	ENSP00000265343.5:p.Tyr256Cys
ENST00000265343.9:c.767A>G	ENSP00000265343.5:p.Tyr256Cys
ENST00000378595.7:c.767A>G	ENSP00000367858.3:p.Tyr256Cys
ENST00000465484.1:n.1026A>G
ENST00000491831.5:n.1027A>G
NM_014423.3:c.767A>G	NP_055238.1:p.Tyr256Cys
XM_005271963.3:c.767A>G	XP_005272020.1:p.Tyr256Cys
XM_006714587.2:c.767A>G	XP_006714650.1:p.Tyr256Cys
XM_005271963.5:c.767A>G	XP_005272020.1:p.Tyr256Cys
XM_006714587.4:c.767A>G	XP_006714650.1:p.Tyr256Cys
NM_014423.4:c.767A>G MANE Select	NP_055238.1:p.Tyr256Cys