Canonical Allele Identifier: CA390623177

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91772157G>C (hg19) ; chr14:g.91305813G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305813G>C , CM000676.2:g.91305813G>C	GRCh38
NC_000014.8:g.91772157G>C , CM000676.1:g.91772157G>C	GRCh37
NC_000014.7:g.90841910G>C	NCBI36
NG_033118.1:g.117032C>G
NG_033118.2:g.117032C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3309C>G MANE Select	ENSP00000374507.6:p.Phe1103Leu
ENST00000389857.10:c.3309C>G	ENSP00000374507.6:p.Phe1103Leu
NM_001080414.3:c.3309C>G	NP_001073883.2:p.Phe1103Leu
XM_005267691.3:c.3309C>G	XP_005267748.1:p.Phe1103Leu
XM_011536796.1:c.3201C>G	XP_011535098.1:p.Phe1067Leu
XR_429316.2:n.3437C>G
XR_943459.1:n.3437C>G
XM_005267691.5:c.3309C>G	XP_005267748.1:p.Phe1103Leu
XM_011536796.2:c.3201C>G	XP_011535098.1:p.Phe1067Leu
XM_017021335.2:c.3309C>G	XP_016876824.1:p.Phe1103Leu
XM_017021336.1:c.390C>G	XP_016876825.1:p.Phe130Leu
XR_429316.4:n.3435C>G
NM_001080414.4:c.3309C>G MANE Select	NP_001073883.2:p.Phe1103Leu