Canonical Allele Identifier: CA709859975
Gene: CCDC88C HGNC NCBI

Linked Data

dbSNP Id: rs1419170019
gnomAD v4: 14-91272482-C-T
MyVariant Identifiers: chr14:g.91738826C>T (hg19) chr14:g.91272482C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272482C>T , CM000676.2:g.91272482C>T GRCh38
NC_000014.8:g.91738826C>T , CM000676.1:g.91738826C>T GRCh37
NC_000014.7:g.90808579C>T NCBI36
NG_033118.1:g.150363G>A
NG_033118.2:g.150363G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.*143G>A MANE Select ENSP00000374507.6:n.*143G>A
ENST00000331194.8:c.*143G>A ENSP00000330332.8:n.*143G>A
ENST00000389857.10:c.*143G>A ENSP00000374507.6:n.*143G>A
ENST00000556726.5:c.2458G>A
NM_001080414.3:c.*143G>A NP_001073883.2:n.*143G>A
XM_011536796.1:c.*143G>A XP_011535098.1:n.*143G>A
XM_011536796.2:c.*143G>A XP_011535098.1:n.*143G>A
XM_017021336.1:c.*143G>A XP_016876825.1:n.*143G>A
NM_001080414.4:c.*143G>A MANE Select NP_001073883.2:n.*143G>A
Search 100 bp 5'
Search 100 bp 3'