Canonical Allele Identifier: CA390608937
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91739270A>C (hg19) chr14:g.91272926A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272926A>C , CM000676.2:g.91272926A>C GRCh38
NC_000014.8:g.91739270A>C , CM000676.1:g.91739270A>C GRCh37
NC_000014.7:g.90809023A>C NCBI36
NG_033118.1:g.149919T>G
NG_033118.2:g.149919T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5786T>G MANE Select ENSP00000374507.6:p.Phe1929Cys
ENST00000331194.8:c.1220T>G ENSP00000330332.8:p.Phe407Cys
ENST00000389857.10:c.5786T>G ENSP00000374507.6:p.Phe1929Cys
ENST00000556726.5:c.2014T>G
NM_001080414.3:c.5786T>G NP_001073883.2:p.Phe1929Cys
XM_011536796.1:c.5678T>G XP_011535098.1:p.Phe1893Cys
XM_011536796.2:c.5678T>G XP_011535098.1:p.Phe1893Cys
XM_017021336.1:c.2867T>G XP_016876825.1:p.Phe956Cys
NM_001080414.4:c.5786T>G MANE Select NP_001073883.2:p.Phe1929Cys
Search 100 bp 5'
Search 100 bp 3'