Canonical Allele Identifier: CA390608750
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 2320063
ClinVar RCV Id: RCV002893352
dbSNP Id: rs1184835913
gnomAD v3: 14-91272857-G-C
gnomAD v4: 14-91272857-G-C
MyVariant Identifiers: chr14:g.91739201G>C (hg19) chr14:g.91272857G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272857G>C , CM000676.2:g.91272857G>C GRCh38
NC_000014.8:g.91739201G>C , CM000676.1:g.91739201G>C GRCh37
NC_000014.7:g.90808954G>C NCBI36
NG_033118.1:g.149988C>G
NG_033118.2:g.149988C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5855C>G MANE Select ENSP00000374507.6:p.Thr1952Ser
ENST00000331194.8:c.1289C>G ENSP00000330332.8:p.Thr430Ser
ENST00000389857.10:c.5855C>G ENSP00000374507.6:p.Thr1952Ser
ENST00000556726.5:c.2083C>G
NM_001080414.3:c.5855C>G NP_001073883.2:p.Thr1952Ser
XM_011536796.1:c.5747C>G XP_011535098.1:p.Thr1916Ser
XM_011536796.2:c.5747C>G XP_011535098.1:p.Thr1916Ser
XM_017021336.1:c.2936C>G XP_016876825.1:p.Thr979Ser
NM_001080414.4:c.5855C>G MANE Select NP_001073883.2:p.Thr1952Ser
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