Canonical Allele Identifier: CA265525311
Gene: CCDC88C HGNC NCBI

Linked Data

dbSNP Id: rs1034544775
MyVariant Identifiers: chr14:g.91279328A>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91279328A>C , CM000676.2:g.91279328A>C GRCh38
NC_000014.8:g.91745672A>C , CM000676.1:g.91745672A>C GRCh37
NC_000014.7:g.90815425A>C NCBI36
NG_033118.1:g.143517T>G
NG_033118.2:g.143517T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.4700-22T>G MANE Select ENSP00000374507.6:n.4700-22T>G
ENST00000331194.8:c.272-22T>G ENSP00000330332.8:n.272-22T>G
ENST00000334448.5:n.512-22T>G
ENST00000389857.10:c.4700-22T>G ENSP00000374507.6:n.4700-22T>G
ENST00000556726.5:c.928-22T>G
ENST00000557455.1:n.650T>G
NM_001080414.3:c.4700-22T>G NP_001073883.2:n.4700-22T>G
XM_011536796.1:c.4592-22T>G XP_011535098.1:n.4592-22T>G
XR_429316.2:n.4975-22T>G
XM_011536796.2:c.4592-22T>G XP_011535098.1:n.4592-22T>G
XM_017021336.1:c.1781-22T>G XP_016876825.1:n.1781-22T>G
XR_429316.4:n.4973-22T>G
NM_001080414.4:c.4700-22T>G MANE Select NP_001073883.2:n.4700-22T>G