Canonical Allele Identifier: CA7308522
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 1342715
ClinVar RCV Id: RCV001839474
dbSNP Id: rs771028975
ExAC: 14:91739021 G / A
gnomAD v2: 14-91739021-G-A
gnomAD v3: 14-91272677-G-A
gnomAD v4: 14-91272677-G-A
MyVariant Identifiers: chr14:g.91739021G>A (hg19) chr14:g.91272677G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272677G>A , CM000676.2:g.91272677G>A GRCh38
NC_000014.8:g.91739021G>A , CM000676.1:g.91739021G>A GRCh37
NC_000014.7:g.90808774G>A NCBI36
NG_033118.1:g.150168C>T
NG_033118.2:g.150168C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.6035C>T MANE Select ENSP00000374507.6:p.Pro2012Leu
ENST00000331194.8:c.1469C>T ENSP00000330332.8:p.Pro490Leu
ENST00000389857.10:c.6035C>T ENSP00000374507.6:p.Pro2012Leu
ENST00000556726.5:c.2263C>T
NM_001080414.3:c.6035C>T NP_001073883.2:p.Pro2012Leu
XM_011536796.1:c.5927C>T XP_011535098.1:p.Pro1976Leu
XM_011536796.2:c.5927C>T XP_011535098.1:p.Pro1976Leu
XM_017021336.1:c.3116C>T XP_016876825.1:p.Pro1039Leu
NM_001080414.4:c.6035C>T MANE Select NP_001073883.2:p.Pro2012Leu
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