Canonical Allele Identifier: CA709859933
Gene: CCDC88C HGNC NCBI

Linked Data

dbSNP Id: rs1347112090
gnomAD v3: 14-91272350-C-T
gnomAD v4: 14-91272350-C-T
MyVariant Identifiers: chr14:g.91738694C>T (hg19) chr14:g.91272350C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272350C>T , CM000676.2:g.91272350C>T GRCh38
NC_000014.8:g.91738694C>T , CM000676.1:g.91738694C>T GRCh37
NC_000014.7:g.90808447C>T NCBI36
NG_033118.1:g.150495G>A
NG_033118.2:g.150495G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.*275G>A MANE Select ENSP00000374507.6:n.*275G>A
ENST00000331194.8:c.*275G>A ENSP00000330332.8:n.*275G>A
ENST00000389857.10:c.*275G>A ENSP00000374507.6:n.*275G>A
ENST00000556726.5:c.2590G>A
NM_001080414.3:c.*275G>A NP_001073883.2:n.*275G>A
XM_011536796.1:c.*275G>A XP_011535098.1:n.*275G>A
XM_011536796.2:c.*275G>A XP_011535098.1:n.*275G>A
XM_017021336.1:c.*275G>A XP_016876825.1:n.*275G>A
NM_001080414.4:c.*275G>A MANE Select NP_001073883.2:n.*275G>A
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