Canonical Allele Identifier: CA8569640
Gene: CNP HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.41973715C>T
GRCh37 chr17:g.40125733C>T
Revel Score:
ENST00000393892 (MANE Select) 0.127
ENST00000310262 0.127
ENST00000393888 0.127
gnomAD v2:
17:40125733 C / T
gnomAD v3:
17:41973715 C / T
gnomAD v4:
chr17-41973715-C-T
Joint Max Group AF 0.00003345 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00003262 (NFE)
ClinVar Allele:
677380
ClinVar RCV:
RCV000850468
RCV004029260
ClinVar Variation:
689708
dbSNP:
376643712
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41973715C>T , CM000679.2:g.41973715C>T GRCh38
NC_000017.10:g.40125733C>T , CM000679.1:g.40125733C>T GRCh37
NC_000017.9:g.37379259C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000393892.8:c.1057C>T MANE Select ENSP00000377470.2:p.Arg353Trp
ENST00000393888.1:c.997C>T ENSP00000377466.1:p.Arg333Trp
ENST00000393892.7:c.1057C>T ENSP00000377470.2:p.Arg353Trp
ENST00000472031.1:c.*234C>T ENSP00000467641.1:n.*234C>T
ENST00000486438.1:n.664C>T
ENST00000592105.1:n.470C>T
NM_033133.4:c.1057C>T NP_149124.3:p.Arg353Trp
XM_006721701.2:c.997C>T XP_006721764.1:p.Arg333Trp
XM_011524340.1:c.997C>T XP_011522642.1:p.Arg333Trp
NM_001330216.1:c.997C>T NP_001317145.1:p.Arg333Trp
XM_011524340.2:c.997C>T XP_011522642.1:p.Arg333Trp
NM_033133.5:c.1057C>T MANE Select NP_149124.3:p.Arg353Trp
NM_001330216.2:c.997C>T NP_001317145.1:p.Arg333Trp
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