Canonical Allele Identifier: CA390608235
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 1902924
ClinVar RCV Id: RCV002583302
dbSNP Id: rs1468647317
gnomAD v2: 14-91739106-G-A
gnomAD v3: 14-91272762-G-A
gnomAD v4: 14-91272762-G-A
MyVariant Identifiers: chr14:g.91739106G>A (hg19) chr14:g.91272762G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272762G>A , CM000676.2:g.91272762G>A GRCh38
NC_000014.8:g.91739106G>A , CM000676.1:g.91739106G>A GRCh37
NC_000014.7:g.90808859G>A NCBI36
NG_033118.1:g.150083C>T
NG_033118.2:g.150083C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5950C>T MANE Select ENSP00000374507.6:p.Arg1984Trp
ENST00000331194.8:c.1384C>T ENSP00000330332.8:p.Arg462Trp
ENST00000389857.10:c.5950C>T ENSP00000374507.6:p.Arg1984Trp
ENST00000556726.5:c.2178C>T
NM_001080414.3:c.5950C>T NP_001073883.2:p.Arg1984Trp
XM_011536796.1:c.5842C>T XP_011535098.1:p.Arg1948Trp
XM_011536796.2:c.5842C>T XP_011535098.1:p.Arg1948Trp
XM_017021336.1:c.3031C>T XP_016876825.1:p.Arg1011Trp
NM_001080414.4:c.5950C>T MANE Select NP_001073883.2:p.Arg1984Trp
Search 100 bp 5'
Search 100 bp 3'