Canonical Allele Identifier: CA360929200

Gene: AFF4

Linked Data

• dbSNP Id: rs1760282768
• gnomAD v4: 5-132892318-T-C
• MyVariant Identifiers: chr5:g.132228010T>C (hg19) ; chr5:g.132892318T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132892318T>C , CM000667.2:g.132892318T>C	GRCh38
NC_000005.9:g.132228010T>C , CM000667.1:g.132228010T>C	GRCh37
NC_000005.8:g.132255909T>C	NCBI36
NG_030340.1:g.76345A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265343.10:c.2483A>G MANE Select	ENSP00000265343.5:p.His828Arg
ENST00000265343.9:c.2483A>G	ENSP00000265343.5:p.His828Arg
ENST00000378595.7:c.2483A>G	ENSP00000367858.3:p.His828Arg
NM_014423.3:c.2483A>G	NP_055238.1:p.His828Arg
XM_005271963.3:c.2483A>G	XP_005272020.1:p.His828Arg
XM_005271964.3:c.1349A>G	XP_005272021.1:p.His450Arg
XM_006714587.2:c.2396A>G	XP_006714650.1:p.His799Arg
XM_005271963.5:c.2483A>G	XP_005272020.1:p.His828Arg
XM_005271964.4:c.1349A>G	XP_005272021.1:p.His450Arg
XM_006714587.4:c.2396A>G	XP_006714650.1:p.His799Arg
NM_014423.4:c.2483A>G MANE Select	NP_055238.1:p.His828Arg