Canonical Allele Identifier: CA7308743
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 2365740
ClinVar RCV Id: RCV002981501 RCV003443160
dbSNP Id: rs200602954
ExAC: 14:91739990 G / C
gnomAD v2: 14-91739990-G-C
gnomAD v4: 14-91273646-G-C
MyVariant Identifiers: chr14:g.91739990G>C (hg19) chr14:g.91273646G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273646G>C , CM000676.2:g.91273646G>C GRCh38
NC_000014.8:g.91739990G>C , CM000676.1:g.91739990G>C GRCh37
NC_000014.7:g.90809743G>C NCBI36
NG_033118.1:g.149199C>G
NG_033118.2:g.149199C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5066C>G MANE Select ENSP00000374507.6:p.Pro1689Arg
ENST00000331194.8:c.638C>G ENSP00000330332.8:p.Pro213Arg
ENST00000334448.5:n.878C>G
ENST00000389857.10:c.5066C>G ENSP00000374507.6:p.Pro1689Arg
ENST00000556726.5:c.1294C>G
NM_001080414.3:c.5066C>G NP_001073883.2:p.Pro1689Arg
XM_011536796.1:c.4958C>G XP_011535098.1:p.Pro1653Arg
XR_429316.2:n.5341C>G
XM_011536796.2:c.4958C>G XP_011535098.1:p.Pro1653Arg
XM_017021336.1:c.2147C>G XP_016876825.1:p.Pro716Arg
XR_429316.4:n.5339C>G
NM_001080414.4:c.5066C>G MANE Select NP_001073883.2:p.Pro1689Arg
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