Canonical Allele Identifier: CA360928431

Gene: AFF4

Linked Data

• dbSNP Id: rs1231651346
• gnomAD v3: 5-132892197-T-G
• gnomAD v4: 5-132892197-T-G
• MyVariant Identifiers: chr5:g.132227889T>G (hg19) ; chr5:g.132892197T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132892197T>G , CM000667.2:g.132892197T>G	GRCh38
NC_000005.9:g.132227889T>G , CM000667.1:g.132227889T>G	GRCh37
NC_000005.8:g.132255788T>G	NCBI36
NG_030340.1:g.76466A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265343.10:c.2604A>C MANE Select	ENSP00000265343.5:p.Glu868Asp
ENST00000265343.9:c.2604A>C	ENSP00000265343.5:p.Glu868Asp
ENST00000378595.7:c.2604A>C	ENSP00000367858.3:p.Glu868Asp
NM_014423.3:c.2604A>C	NP_055238.1:p.Glu868Asp
XM_005271963.3:c.2604A>C	XP_005272020.1:p.Glu868Asp
XM_005271964.3:c.1470A>C	XP_005272021.1:p.Glu490Asp
XM_006714587.2:c.2517A>C	XP_006714650.1:p.Glu839Asp
XM_005271963.5:c.2604A>C	XP_005272020.1:p.Glu868Asp
XM_005271964.4:c.1470A>C	XP_005272021.1:p.Glu490Asp
XM_006714587.4:c.2517A>C	XP_006714650.1:p.Glu839Asp
NM_014423.4:c.2604A>C MANE Select	NP_055238.1:p.Glu868Asp