Canonical Allele Identifier: CA8569677
Gene: CNP HGNC NCBI
COSMIC:
COSM3755546 (not active)
COSM3755547 (not active)
MyVariant.info:
GRCh38 chr17:g.41973846G>A
GRCh37 chr17:g.40125864G>A
gnomAD v2:
17:40125864 G / A
gnomAD v3:
17:41973846 G / A
gnomAD v4:
chr17-41973846-G-A
Joint Max Group AF 0.39500584 (EAS)
Genomes Max Group AF 0.38916341 (SAS)
Exomes Max Group AF 0.39525027 (EAS)
dbSNP:
2070106
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41973846G>A , CM000679.2:g.41973846G>A GRCh38
NC_000017.10:g.40125864G>A , CM000679.1:g.40125864G>A GRCh37
NC_000017.9:g.37379390G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000393892.8:c.1188G>A MANE Select ENSP00000377470.2:p.Gly396=
ENST00000393888.1:c.1128G>A ENSP00000377466.1:p.Gly376=
ENST00000393892.7:c.1188G>A ENSP00000377470.2:p.Gly396=
ENST00000472031.1:c.*365G>A ENSP00000467641.1:n.*365G>A
ENST00000486438.1:n.795G>A
NM_033133.4:c.1188G>A NP_149124.3:p.Gly396=
XM_006721701.2:c.1128G>A XP_006721764.1:p.Gly376=
XM_011524340.1:c.1128G>A XP_011522642.1:p.Gly376=
NM_001330216.1:c.1128G>A NP_001317145.1:p.Gly376=
XM_011524340.2:c.1128G>A XP_011522642.1:p.Gly376=
NM_033133.5:c.1188G>A MANE Select NP_149124.3:p.Gly396=
NM_001330216.2:c.1128G>A NP_001317145.1:p.Gly376=
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