Canonical Allele Identifier: CA7308527
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 447025
ClinVar RCV Id: RCV000518079 RCV003727755
dbSNP Id: rs372767405
ExAC: 14:91739032 A / G
gnomAD v2: 14-91739032-A-G
gnomAD v3: 14-91272688-A-G
gnomAD v4: 14-91272688-A-G
MyVariant Identifiers: chr14:g.91739032A>G (hg19) chr14:g.91272688A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272688A>G , CM000676.2:g.91272688A>G GRCh38
NC_000014.8:g.91739032A>G , CM000676.1:g.91739032A>G GRCh37
NC_000014.7:g.90808785A>G NCBI36
NG_033118.1:g.150157T>C
NG_033118.2:g.150157T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.6024T>C MANE Select ENSP00000374507.6:p.Ser2008=
ENST00000331194.8:c.1458T>C ENSP00000330332.8:p.Ser486=
ENST00000389857.10:c.6024T>C ENSP00000374507.6:p.Ser2008=
ENST00000556726.5:c.2252T>C
NM_001080414.3:c.6024T>C NP_001073883.2:p.Ser2008=
XM_011536796.1:c.5916T>C XP_011535098.1:p.Ser1972=
XM_011536796.2:c.5916T>C XP_011535098.1:p.Ser1972=
XM_017021336.1:c.3105T>C XP_016876825.1:p.Ser1035=
NM_001080414.4:c.6024T>C MANE Select NP_001073883.2:p.Ser2008=
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