Canonical Allele Identifier: CA360969062

Gene: AFF4

Linked Data

• dbSNP Id: rs1478275537
• gnomAD v2: 5-132222003-T-C
• gnomAD v3: 5-132886311-T-C
• gnomAD v4: 5-132886311-T-C
• MyVariant Identifiers: chr5:g.132222003T>C (hg19) ; chr5:g.132886311T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132886311T>C , CM000667.2:g.132886311T>C	GRCh38
NC_000005.9:g.132222003T>C , CM000667.1:g.132222003T>C	GRCh37
NC_000005.8:g.132249902T>C	NCBI36
NG_030340.1:g.82352A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265343.10:c.3098A>G MANE Select	ENSP00000265343.5:p.Lys1033Arg
ENST00000265343.9:c.3098A>G	ENSP00000265343.5:p.Lys1033Arg
NM_014423.3:c.3098A>G	NP_055238.1:p.Lys1033Arg
XM_005271963.3:c.3098A>G	XP_005272020.1:p.Lys1033Arg
XM_005271964.3:c.1964A>G	XP_005272021.1:p.Lys655Arg
XM_006714587.2:c.3011A>G	XP_006714650.1:p.Lys1004Arg
XM_005271963.5:c.3098A>G	XP_005272020.1:p.Lys1033Arg
XM_005271964.4:c.1964A>G	XP_005272021.1:p.Lys655Arg
XM_006714587.4:c.3011A>G	XP_006714650.1:p.Lys1004Arg
NM_014423.4:c.3098A>G MANE Select	NP_055238.1:p.Lys1033Arg