Canonical Allele Identifier: CA127269876

Gene: AFF4

Linked Data

• dbSNP Id: rs1053679148
• gnomAD v2: 5-132227707-T-A
• gnomAD v3: 5-132892015-T-A
• gnomAD v4: 5-132892015-T-A
• MyVariant Identifiers: chr5:g.132227707T>A (hg19) ; chr5:g.132892015T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132892015T>A , CM000667.2:g.132892015T>A	GRCh38
NC_000005.9:g.132227707T>A , CM000667.1:g.132227707T>A	GRCh37
NC_000005.8:g.132255606T>A	NCBI36
NG_030340.1:g.76648A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265343.10:c.2637+149A>T MANE Select	ENSP00000265343.5:n.2637+149A>T
ENST00000265343.9:c.2637+149A>T	ENSP00000265343.5:n.2637+149A>T
ENST00000378595.7:c.*83A>T	ENSP00000367858.3:n.*83A>T
NM_014423.3:c.2637+149A>T	NP_055238.1:n.2637+149A>T
XM_005271963.3:c.2637+149A>T	XP_005272020.1:n.2637+149A>T
XM_005271964.3:c.1503+149A>T	XP_005272021.1:n.1503+149A>T
XM_006714587.2:c.2550+149A>T	XP_006714650.1:n.2550+149A>T
XM_005271963.5:c.2637+149A>T	XP_005272020.1:n.2637+149A>T
XM_005271964.4:c.1503+149A>T	XP_005272021.1:n.1503+149A>T
XM_006714587.4:c.2550+149A>T	XP_006714650.1:n.2550+149A>T
NM_014423.4:c.2637+149A>T MANE Select	NP_055238.1:n.2637+149A>T