Canonical Allele Identifier: CA858710262

Gene: ZNF483

Linked Data

• dbSNP Id: rs1245300520
• gnomAD v3: 9-111531467-C-T
• gnomAD v4: 9-111531467-C-T
• MyVariant Identifiers: chr9:g.114293747C>T (hg19) ; chr9:g.111531467C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.111531467C>T , CM000671.2:g.111531467C>T	GRCh38
NC_000009.11:g.114293747C>T , CM000671.1:g.114293747C>T	GRCh37
NC_000009.10:g.113333568C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309235.6:c.501+504C>T MANE Select	ENSP00000311679.5:n.501+504C>T
ENST00000309235.5:c.501+504C>T	ENSP00000311679.5:n.501+504C>T
ENST00000355824.7:c.501+504C>T	ENSP00000438048.1:n.501+504C>T
ENST00000358151.8:c.501+504C>T	ENSP00000350871.4:n.501+504C>T
NM_001007169.3:c.501+504C>T	NP_001007170.1:n.501+504C>T
NM_133464.3:c.501+504C>T	NP_597721.2:n.501+504C>T
XM_011518299.1:c.501+504C>T	XP_011516601.1:n.501+504C>T
XM_011518300.1:c.501+504C>T	XP_011516602.1:n.501+504C>T
XM_011518301.1:c.33+504C>T	XP_011516603.1:n.33+504C>T
NM_001007169.4:c.501+504C>T	NP_001007170.1:n.501+504C>T
NM_133464.4:c.501+504C>T	NP_597721.2:n.501+504C>T
XM_011518300.2:c.501+504C>T	XP_011516602.1:n.501+504C>T
XM_017014337.1:c.501+504C>T	XP_016869826.1:n.501+504C>T
XM_017014338.1:c.501+504C>T	XP_016869827.1:n.501+504C>T
XM_017014339.1:c.501+504C>T	XP_016869828.1:n.501+504C>T
NM_001007169.5:c.501+504C>T	NP_001007170.1:n.501+504C>T
NM_133464.5:c.501+504C>T MANE Select	NP_597721.2:n.501+504C>T
NM_001007169.6:c.501+504C>T	NP_001007170.1:n.501+504C>T