Canonical Allele Identifier: CA360929205

Gene: AFF4

Linked Data

• ClinVar Variation Id: 2698799
• ClinVar RCV Id: RCV003589623
• dbSNP Id: rs1380411598
• gnomAD v2: 5-132228011-G-A
• gnomAD v4: 5-132892319-G-A
• MyVariant Identifiers: chr5:g.132228011G>A (hg19) ; chr5:g.132892319G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132892319G>A , CM000667.2:g.132892319G>A	GRCh38
NC_000005.9:g.132228011G>A , CM000667.1:g.132228011G>A	GRCh37
NC_000005.8:g.132255910G>A	NCBI36
NG_030340.1:g.76344C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265343.10:c.2482C>T MANE Select	ENSP00000265343.5:p.His828Tyr
ENST00000265343.9:c.2482C>T	ENSP00000265343.5:p.His828Tyr
ENST00000378595.7:c.2482C>T	ENSP00000367858.3:p.His828Tyr
NM_014423.3:c.2482C>T	NP_055238.1:p.His828Tyr
XM_005271963.3:c.2482C>T	XP_005272020.1:p.His828Tyr
XM_005271964.3:c.1348C>T	XP_005272021.1:p.His450Tyr
XM_006714587.2:c.2395C>T	XP_006714650.1:p.His799Tyr
XM_005271963.5:c.2482C>T	XP_005272020.1:p.His828Tyr
XM_005271964.4:c.1348C>T	XP_005272021.1:p.His450Tyr
XM_006714587.4:c.2395C>T	XP_006714650.1:p.His799Tyr
NM_014423.4:c.2482C>T MANE Select	NP_055238.1:p.His828Tyr