Canonical Allele Identifier: CA5171786

Gene: ZNF462

Linked Data

• ClinVar Variation Id: 2510304
• ClinVar RCV Id: RCV003251306
• dbSNP Id: rs140665053
• ExAC: 9:109690382 A / C
• gnomAD v2: 9-109690382-A-C
• gnomAD v3: 9-106928101-A-C
• gnomAD v4: 9-106928101-A-C
• MyVariant Identifiers: chr9:g.109690382A>C (hg19) ; chr9:g.106928101A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.106928101A>C , CM000671.2:g.106928101A>C	GRCh38
NC_000009.11:g.109690382A>C , CM000671.1:g.109690382A>C	GRCh37
NC_000009.10:g.108730203A>C	NCBI36
NG_052913.1:g.70005A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000277225.10:c.4189A>C MANE Select	ENSP00000277225.5:p.Asn1397His
ENST00000277225.9:c.4189A>C	ENSP00000277225.5:p.Asn1397His
ENST00000374686.6:c.838A>C	ENSP00000363818.2:p.Asn280His
ENST00000441147.6:c.724A>C	ENSP00000397306.2:p.Asn242His
ENST00000472574.1:c.281-2424A>C	ENSP00000476222.1:n.281-2424A>C
ENST00000480607.5:n.240+937A>C
NM_021224.4:c.4189A>C	NP_067047.4:p.Asn1397His
XM_006717209.2:c.4189A>C	XP_006717272.1:p.Asn1397His
XM_006717210.2:c.4189A>C	XP_006717273.1:p.Asn1397His
XM_006717211.2:c.4189A>C	XP_006717274.1:p.Asn1397His
XM_006717212.2:c.4189A>C	XP_006717275.1:p.Asn1397His
XM_006717215.2:c.4189A>C	XP_006717278.1:p.Asn1397His
XM_006717216.2:c.4189A>C	XP_006717279.1:p.Asn1397His
XM_006717218.2:c.3252+937A>C	XP_006717281.1:n.3252+937A>C
XM_011518892.1:c.4189A>C	XP_011517194.1:p.Asn1397His
NM_001347997.1:c.3252+937A>C	NP_001334926.1:n.3252+937A>C
NM_021224.5:c.4189A>C	NP_067047.4:p.Asn1397His
XM_006717209.4:c.4189A>C	XP_006717272.1:p.Asn1397His
XM_006717211.4:c.4189A>C	XP_006717274.1:p.Asn1397His
XM_006717212.4:c.4189A>C	XP_006717275.1:p.Asn1397His
XM_006717215.4:c.4189A>C	XP_006717278.1:p.Asn1397His
XM_006717216.4:c.4189A>C	XP_006717279.1:p.Asn1397His
XM_006717218.4:c.3252+937A>C	XP_006717281.1:n.3252+937A>C
XM_017014996.2:c.4189A>C	XP_016870485.1:p.Asn1397His
XM_017014997.2:c.4189A>C	XP_016870486.1:p.Asn1397His
XM_017014998.2:c.3252+937A>C	XP_016870487.1:n.3252+937A>C
XM_024447629.1:c.4189A>C	XP_024303397.1:p.Asn1397His
NM_021224.6:c.4189A>C MANE Select	NP_067047.4:p.Asn1397His
NM_001347997.2:c.3252+937A>C	NP_001334926.1:n.3252+937A>C