Canonical Allele Identifier: CA265516511
Gene: CCDC88C HGNC NCBI

Linked Data

dbSNP Id: rs770711787
gnomAD v4: 14-91272388-A-G
MyVariant Identifiers: chr14:g.91738732A>G (hg19) chr14:g.91272388A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272388A>G , CM000676.2:g.91272388A>G GRCh38
NC_000014.8:g.91738732A>G , CM000676.1:g.91738732A>G GRCh37
NC_000014.7:g.90808485A>G NCBI36
NG_033118.1:g.150457T>C
NG_033118.2:g.150457T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.*237T>C MANE Select ENSP00000374507.6:n.*237T>C
ENST00000331194.8:c.*237T>C ENSP00000330332.8:n.*237T>C
ENST00000389857.10:c.*237T>C ENSP00000374507.6:n.*237T>C
ENST00000556726.5:c.2552T>C
NM_001080414.3:c.*237T>C NP_001073883.2:n.*237T>C
XM_011536796.1:c.*237T>C XP_011535098.1:n.*237T>C
XM_011536796.2:c.*237T>C XP_011535098.1:n.*237T>C
XM_017021336.1:c.*237T>C XP_016876825.1:n.*237T>C
NM_001080414.4:c.*237T>C MANE Select NP_001073883.2:n.*237T>C
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