Canonical Allele Identifier: CA487828581
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91739104C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272760C>G , CM000676.2:g.91272760C>G GRCh38
NC_000014.8:g.91739104C>G , CM000676.1:g.91739104C>G GRCh37
NC_000014.7:g.90808857C>G NCBI36
NG_033118.1:g.150085G>C
NG_033118.2:g.150085G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5952G>C MANE Select ENSP00000374507.6:p.Arg1984=
ENST00000331194.8:c.1386G>C ENSP00000330332.8:p.Arg462=
ENST00000389857.10:c.5952G>C ENSP00000374507.6:p.Arg1984=
ENST00000556726.5:c.2180G>C
NM_001080414.3:c.5952G>C NP_001073883.2:p.Arg1984=
XM_011536796.1:c.5844G>C XP_011535098.1:p.Arg1948=
XM_011536796.2:c.5844G>C XP_011535098.1:p.Arg1948=
XM_017021336.1:c.3033G>C XP_016876825.1:p.Arg1011=
NM_001080414.4:c.5952G>C MANE Select NP_001073883.2:p.Arg1984=