Canonical Allele Identifier: CA374408816
Gene: ZNF462 HGNC NCBI

Linked Data

dbSNP Id: rs1298257373

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.106928404G>C , CM000671.2:g.106928404G>C GRCh38
NC_000009.11:g.109690685G>C , CM000671.1:g.109690685G>C GRCh37
NC_000009.10:g.108730506G>C NCBI36
NG_052913.1:g.70308G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000277225.10:c.4492G>C MANE Select ENSP00000277225.5:p.Val1498Leu
ENST00000277225.9:c.4492G>C ENSP00000277225.5:p.Val1498Leu
ENST00000374686.6:c.1141G>C ENSP00000363818.2:p.Val381Leu
ENST00000441147.6:c.1027G>C ENSP00000397306.2:p.Val343Leu
ENST00000472574.1:c.281-2121G>C ENSP00000476222.1:n.281-2121G>C
ENST00000480607.5:n.240+1240G>C
NM_021224.4:c.4492G>C NP_067047.4:p.Val1498Leu
XM_006717209.2:c.4492G>C XP_006717272.1:p.Val1498Leu
XM_006717210.2:c.4492G>C XP_006717273.1:p.Val1498Leu
XM_006717211.2:c.4492G>C XP_006717274.1:p.Val1498Leu
XM_006717212.2:c.4492G>C XP_006717275.1:p.Val1498Leu
XM_006717215.2:c.4492G>C XP_006717278.1:p.Val1498Leu
XM_006717216.2:c.4492G>C XP_006717279.1:p.Val1498Leu
XM_006717218.2:c.3252+1240G>C XP_006717281.1:n.3252+1240G>C
XM_011518892.1:c.4492G>C XP_011517194.1:p.Val1498Leu
NM_001347997.1:c.3252+1240G>C NP_001334926.1:n.3252+1240G>C
NM_021224.5:c.4492G>C NP_067047.4:p.Val1498Leu
XM_006717209.4:c.4492G>C XP_006717272.1:p.Val1498Leu
XM_006717211.4:c.4492G>C XP_006717274.1:p.Val1498Leu
XM_006717212.4:c.4492G>C XP_006717275.1:p.Val1498Leu
XM_006717215.4:c.4492G>C XP_006717278.1:p.Val1498Leu
XM_006717216.4:c.4492G>C XP_006717279.1:p.Val1498Leu
XM_006717218.4:c.3252+1240G>C XP_006717281.1:n.3252+1240G>C
XM_017014996.2:c.4492G>C XP_016870485.1:p.Val1498Leu
XM_017014997.2:c.4492G>C XP_016870486.1:p.Val1498Leu
XM_017014998.2:c.3252+1240G>C XP_016870487.1:n.3252+1240G>C
XM_024447629.1:c.4492G>C XP_024303397.1:p.Val1498Leu
NM_021224.6:c.4492G>C MANE Select NP_067047.4:p.Val1498Leu
NM_001347997.2:c.3252+1240G>C NP_001334926.1:n.3252+1240G>C