Canonical Allele Identifier: CA360929180

Gene: AFF4

Linked Data

• gnomAD v4: 5-132892312-G-C
• MyVariant Identifiers: chr5:g.132228004G>C (hg19) ; chr5:g.132892312G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132892312G>C , CM000667.2:g.132892312G>C	GRCh38
NC_000005.9:g.132228004G>C , CM000667.1:g.132228004G>C	GRCh37
NC_000005.8:g.132255903G>C	NCBI36
NG_030340.1:g.76351C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265343.10:c.2489C>G MANE Select	ENSP00000265343.5:p.Ser830Cys
ENST00000265343.9:c.2489C>G	ENSP00000265343.5:p.Ser830Cys
ENST00000378595.7:c.2489C>G	ENSP00000367858.3:p.Ser830Cys
NM_014423.3:c.2489C>G	NP_055238.1:p.Ser830Cys
XM_005271963.3:c.2489C>G	XP_005272020.1:p.Ser830Cys
XM_005271964.3:c.1355C>G	XP_005272021.1:p.Ser452Cys
XM_006714587.2:c.2402C>G	XP_006714650.1:p.Ser801Cys
XM_005271963.5:c.2489C>G	XP_005272020.1:p.Ser830Cys
XM_005271964.4:c.1355C>G	XP_005272021.1:p.Ser452Cys
XM_006714587.4:c.2402C>G	XP_006714650.1:p.Ser801Cys
NM_014423.4:c.2489C>G MANE Select	NP_055238.1:p.Ser830Cys