Canonical Allele Identifier: CA174688

Gene: ZNF304

Linked Data

• ClinVar Variation Id: 161734
• ClinVar RCV Id: RCV000149270
• dbSNP Id: rs193920881
• gnomAD v4: 19-57357269-T-A
• MyVariant Identifiers: chr19:g.57868637T>A (hg19) ; chr19:g.57357269T>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.57357269T>A , CM000681.2:g.57357269T>A	GRCh38
NC_000019.9:g.57868637T>A , CM000681.1:g.57868637T>A	GRCh37
NC_000019.8:g.62560449T>A	NCBI36
NG_051201.1:g.11017T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282286.6:c.1400T>A MANE Select	ENSP00000282286.4:p.Ile467Lys
ENST00000282286.5:c.1400T>A	ENSP00000282286.4:p.Ile467Lys
ENST00000391705.7:c.1400T>A	ENSP00000375586.3:p.Ile467Lys
ENST00000443917.6:c.1541T>A	ENSP00000401642.2:p.Ile514Lys
ENST00000598744.1:c.1274T>A	ENSP00000470319.1:p.Ile425Lys
NM_001290318.1:c.1541T>A	NP_001277247.1:p.Ile514Lys
NM_001290319.1:c.1274T>A	NP_001277248.1:p.Ile425Lys
NM_020657.3:c.1400T>A	NP_065708.2:p.Ile467Lys
XM_011527144.1:c.1415T>A	XP_011525446.1:p.Ile472Lys
XM_011527145.1:c.1415T>A	XP_011525447.1:p.Ile472Lys
XM_011527146.1:c.1415T>A	XP_011525448.1:p.Ile472Lys
NM_001329456.1:c.1124T>A	NP_001316385.1:p.Ile375Lys
XM_011527145.2:c.1415T>A	XP_011525447.1:p.Ile472Lys
NM_001290318.2:c.1541T>A	NP_001277247.1:p.Ile514Lys
NM_001290319.2:c.1274T>A	NP_001277248.1:p.Ile425Lys
NM_001329456.2:c.1124T>A	NP_001316385.1:p.Ile375Lys
NM_020657.4:c.1400T>A MANE Select	NP_065708.2:p.Ile467Lys