Canonical Allele Identifier: CA5171783

Gene: ZNF462

Linked Data

• dbSNP Id: rs763352025
• ExAC: 9:109690369 C / T
• gnomAD v2: 9-109690369-C-T
• gnomAD v4: 9-106928088-C-T
• MyVariant Identifiers: chr9:g.109690369C>T (hg19) ; chr9:g.106928088C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.106928088C>T , CM000671.2:g.106928088C>T	GRCh38
NC_000009.11:g.109690369C>T , CM000671.1:g.109690369C>T	GRCh37
NC_000009.10:g.108730190C>T	NCBI36
NG_052913.1:g.69992C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000277225.10:c.4176C>T MANE Select	ENSP00000277225.5:p.His1392=
ENST00000277225.9:c.4176C>T	ENSP00000277225.5:p.His1392=
ENST00000374686.6:c.825C>T	ENSP00000363818.2:p.His275=
ENST00000441147.6:c.711C>T	ENSP00000397306.2:p.His237=
ENST00000472574.1:c.281-2437C>T	ENSP00000476222.1:n.281-2437C>T
ENST00000480607.5:n.240+924C>T
NM_021224.4:c.4176C>T	NP_067047.4:p.His1392=
XM_006717209.2:c.4176C>T	XP_006717272.1:p.His1392=
XM_006717210.2:c.4176C>T	XP_006717273.1:p.His1392=
XM_006717211.2:c.4176C>T	XP_006717274.1:p.His1392=
XM_006717212.2:c.4176C>T	XP_006717275.1:p.His1392=
XM_006717215.2:c.4176C>T	XP_006717278.1:p.His1392=
XM_006717216.2:c.4176C>T	XP_006717279.1:p.His1392=
XM_006717218.2:c.3252+924C>T	XP_006717281.1:n.3252+924C>T
XM_011518892.1:c.4176C>T	XP_011517194.1:p.His1392=
NM_001347997.1:c.3252+924C>T	NP_001334926.1:n.3252+924C>T
NM_021224.5:c.4176C>T	NP_067047.4:p.His1392=
XM_006717209.4:c.4176C>T	XP_006717272.1:p.His1392=
XM_006717211.4:c.4176C>T	XP_006717274.1:p.His1392=
XM_006717212.4:c.4176C>T	XP_006717275.1:p.His1392=
XM_006717215.4:c.4176C>T	XP_006717278.1:p.His1392=
XM_006717216.4:c.4176C>T	XP_006717279.1:p.His1392=
XM_006717218.4:c.3252+924C>T	XP_006717281.1:n.3252+924C>T
XM_017014996.2:c.4176C>T	XP_016870485.1:p.His1392=
XM_017014997.2:c.4176C>T	XP_016870486.1:p.His1392=
XM_017014998.2:c.3252+924C>T	XP_016870487.1:n.3252+924C>T
XM_024447629.1:c.4176C>T	XP_024303397.1:p.His1392=
NM_021224.6:c.4176C>T MANE Select	NP_067047.4:p.His1392=
NM_001347997.2:c.3252+924C>T	NP_001334926.1:n.3252+924C>T