Canonical Allele Identifier: CA374407971
Gene: ZNF462 HGNC NCBI

Linked Data

ClinVar Variation Id: 1341928
ClinVar RCV Id: RCV001837408
dbSNP Id: rs758226459

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.106928164C>G , CM000671.2:g.106928164C>G GRCh38
NC_000009.11:g.109690445C>G , CM000671.1:g.109690445C>G GRCh37
NC_000009.10:g.108730266C>G NCBI36
NG_052913.1:g.70068C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000277225.10:c.4252C>G MANE Select ENSP00000277225.5:p.Leu1418Val
ENST00000277225.9:c.4252C>G ENSP00000277225.5:p.Leu1418Val
ENST00000374686.6:c.901C>G ENSP00000363818.2:p.Leu301Val
ENST00000441147.6:c.787C>G ENSP00000397306.2:p.Leu263Val
ENST00000472574.1:c.281-2361C>G ENSP00000476222.1:n.281-2361C>G
ENST00000480607.5:n.240+1000C>G
NM_021224.4:c.4252C>G NP_067047.4:p.Leu1418Val
XM_006717209.2:c.4252C>G XP_006717272.1:p.Leu1418Val
XM_006717210.2:c.4252C>G XP_006717273.1:p.Leu1418Val
XM_006717211.2:c.4252C>G XP_006717274.1:p.Leu1418Val
XM_006717212.2:c.4252C>G XP_006717275.1:p.Leu1418Val
XM_006717215.2:c.4252C>G XP_006717278.1:p.Leu1418Val
XM_006717216.2:c.4252C>G XP_006717279.1:p.Leu1418Val
XM_006717218.2:c.3252+1000C>G XP_006717281.1:n.3252+1000C>G
XM_011518892.1:c.4252C>G XP_011517194.1:p.Leu1418Val
NM_001347997.1:c.3252+1000C>G NP_001334926.1:n.3252+1000C>G
NM_021224.5:c.4252C>G NP_067047.4:p.Leu1418Val
XM_006717209.4:c.4252C>G XP_006717272.1:p.Leu1418Val
XM_006717211.4:c.4252C>G XP_006717274.1:p.Leu1418Val
XM_006717212.4:c.4252C>G XP_006717275.1:p.Leu1418Val
XM_006717215.4:c.4252C>G XP_006717278.1:p.Leu1418Val
XM_006717216.4:c.4252C>G XP_006717279.1:p.Leu1418Val
XM_006717218.4:c.3252+1000C>G XP_006717281.1:n.3252+1000C>G
XM_017014996.2:c.4252C>G XP_016870485.1:p.Leu1418Val
XM_017014997.2:c.4252C>G XP_016870486.1:p.Leu1418Val
XM_017014998.2:c.3252+1000C>G XP_016870487.1:n.3252+1000C>G
XM_024447629.1:c.4252C>G XP_024303397.1:p.Leu1418Val
NM_021224.6:c.4252C>G MANE Select NP_067047.4:p.Leu1418Val
NM_001347997.2:c.3252+1000C>G NP_001334926.1:n.3252+1000C>G