Canonical Allele Identifier: CA487829267
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 2803198
ClinVar RCV Id: RCV003679387
dbSNP Id: rs1449459971
gnomAD v2: 14-91739785-C-T
gnomAD v4: 14-91273441-C-T
MyVariant Identifiers: chr14:g.91739785C>T (hg19) chr14:g.91273441C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273441C>T , CM000676.2:g.91273441C>T GRCh38
NC_000014.8:g.91739785C>T , CM000676.1:g.91739785C>T GRCh37
NC_000014.7:g.90809538C>T NCBI36
NG_033118.1:g.149404G>A
NG_033118.2:g.149404G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000389857.11:c.5271G>A MANE Select ENSP00000374507.6:p.Leu1757=
ENST00000331194.8:c.843G>A ENSP00000330332.8:p.Leu281=
ENST00000389857.10:c.5271G>A ENSP00000374507.6:p.Leu1757=
ENST00000556726.5:c.1499G>A
NM_001080414.3:c.5271G>A NP_001073883.2:p.Leu1757=
XM_011536796.1:c.5163G>A XP_011535098.1:p.Leu1721=
XM_011536796.2:c.5163G>A XP_011535098.1:p.Leu1721=
XM_017021336.1:c.2352G>A XP_016876825.1:p.Leu784=
NM_001080414.4:c.5271G>A MANE Select NP_001073883.2:p.Leu1757=
Search 100 bp 5'
Search 100 bp 3'