Canonical Allele Identifier: CA265516593
Gene: CCDC88C HGNC NCBI

Linked Data

dbSNP Id: rs45608740
gnomAD v2: 14-91738852-A-G
gnomAD v3: 14-91272508-A-G
gnomAD v4: 14-91272508-A-G
MyVariant Identifiers: chr14:g.91738852A>G (hg19) chr14:g.91272508A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272508A>G , CM000676.2:g.91272508A>G GRCh38
NC_000014.8:g.91738852A>G , CM000676.1:g.91738852A>G GRCh37
NC_000014.7:g.90808605A>G NCBI36
NG_033118.1:g.150337T>C
NG_033118.2:g.150337T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.*117T>C MANE Select ENSP00000374507.6:n.*117T>C
ENST00000331194.8:c.*117T>C ENSP00000330332.8:n.*117T>C
ENST00000389857.10:c.*117T>C ENSP00000374507.6:n.*117T>C
ENST00000556726.5:c.2432T>C
NM_001080414.3:c.*117T>C NP_001073883.2:n.*117T>C
XM_011536796.1:c.*117T>C XP_011535098.1:n.*117T>C
XM_011536796.2:c.*117T>C XP_011535098.1:n.*117T>C
XM_017021336.1:c.*117T>C XP_016876825.1:n.*117T>C
NM_001080414.4:c.*117T>C MANE Select NP_001073883.2:n.*117T>C
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