Canonical Allele Identifier: CA364908989
Gene: ZNF292 HGNC NCBI

Linked Data

ClinVar Variation Id: 585155
dbSNP Id: rs1166797338
gnomAD v2: 6-87964755-A-G
gnomAD v3: 6-87255037-A-G
gnomAD v4: 6-87255037-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.87255037A>G , CM000668.2:g.87255037A>G GRCh38
NC_000006.11:g.87964755A>G , CM000668.1:g.87964755A>G GRCh37
NC_000006.10:g.88021474A>G NCBI36
NG_054887.1:g.104487A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000466062.3:c.1450A>G
ENST00000699914.1:c.1408A>G ENSP00000514683.1:p.Ile470Val
ENST00000699925.1:c.*1355A>G ENSP00000514691.1:n.*1355A>G
ENST00000699989.1:n.4868A>G
ENST00000699991.1:c.626A>G
ENST00000369577.8:c.1408A>G MANE Select ENSP00000358590.3:p.Ile470Val
ENST00000339907.8:c.1393A>G ENSP00000342847.4:p.Ile465Val
ENST00000369577.7:c.1408A>G ENSP00000358590.3:p.Ile470Val
ENST00000466062.2:c.826A>G
ENST00000496806.2:c.200-5038A>G ENSP00000428857.1:n.200-5038A>G
NM_015021.1:c.1408A>G NP_055836.1:p.Ile470Val
XM_005248697.3:c.988A>G XP_005248754.1:p.Ile330Val
XM_005248698.3:c.634A>G XP_005248755.1:p.Ile212Val
XM_011535625.1:c.442A>G XP_011533927.1:p.Ile148Val
NM_001351444.1:c.988A>G NP_001338373.1:p.Ile330Val
NM_015021.2:c.1408A>G NP_055836.1:p.Ile470Val
XM_005248697.4:c.988A>G XP_005248754.1:p.Ile330Val
XM_011535625.2:c.442A>G XP_011533927.1:p.Ile148Val
XM_017010576.1:c.988A>G XP_016866065.1:p.Ile330Val
XM_017010577.1:c.988A>G XP_016866066.1:p.Ile330Val
XM_017010578.2:c.988A>G XP_016866067.1:p.Ile330Val
XM_017010579.1:c.988A>G XP_016866068.1:p.Ile330Val
XM_017010580.1:c.988A>G XP_016866069.1:p.Ile330Val
XM_017010582.1:c.988A>G XP_016866071.1:p.Ile330Val
XM_017010583.1:c.988A>G XP_016866072.1:p.Ile330Val
XM_017010584.2:c.988A>G XP_016866073.1:p.Ile330Val
NM_015021.3:c.1408A>G MANE Select NP_055836.1:p.Ile470Val
NM_001351444.2:c.988A>G NP_001338373.1:p.Ile330Val