Canonical Allele Identifier: CA7308736
Gene: CCDC88C HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.91273625A>G
GRCh37 chr14:g.91739969A>G
Revel Score:
ENST00000389857 (MANE Select) 0.464
ENST00000427583 0.464
ENST00000331194 0.464
gnomAD v2:
14:91739969 A / G
gnomAD v3:
14:91273625 A / G
gnomAD v4:
chr14-91273625-A-G
Joint Max Group AF 0.00199929 (SAS)
Genomes Max Group AF 0.0025924 (NFE)
Exomes Max Group AF 0.00204811 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273625A>G , CM000676.2:g.91273625A>G GRCh38
NC_000014.8:g.91739969A>G , CM000676.1:g.91739969A>G GRCh37
NC_000014.7:g.90809722A>G NCBI36
NG_033118.1:g.149220T>C
NG_033118.2:g.149220T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5087T>C MANE Select ENSP00000374507.6:p.Leu1696Pro
ENST00000331194.8:c.659T>C ENSP00000330332.8:p.Leu220Pro
ENST00000334448.5:n.899T>C
ENST00000389857.10:c.5087T>C ENSP00000374507.6:p.Leu1696Pro
ENST00000556726.5:c.1315T>C
NM_001080414.3:c.5087T>C NP_001073883.2:p.Leu1696Pro
XM_011536796.1:c.4979T>C XP_011535098.1:p.Leu1660Pro
XR_429316.2:n.5362T>C
XM_011536796.2:c.4979T>C XP_011535098.1:p.Leu1660Pro
XM_017021336.1:c.2168T>C XP_016876825.1:p.Leu723Pro
XR_429316.4:n.5360T>C
NM_001080414.4:c.5087T>C MANE Select NP_001073883.2:p.Leu1696Pro
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