Canonical Allele Identifier: CA390623666

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91305912-C-G
• MyVariant Identifiers: chr14:g.91772256C>G (hg19) ; chr14:g.91305912C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305912C>G , CM000676.2:g.91305912C>G	GRCh38
NC_000014.8:g.91772256C>G , CM000676.1:g.91772256C>G	GRCh37
NC_000014.7:g.90842009C>G	NCBI36
NG_033118.1:g.116933G>C
NG_033118.2:g.116933G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3210G>C MANE Select	ENSP00000374507.6:p.Gln1070His
ENST00000389857.10:c.3210G>C	ENSP00000374507.6:p.Gln1070His
NM_001080414.3:c.3210G>C	NP_001073883.2:p.Gln1070His
XM_005267691.3:c.3210G>C	XP_005267748.1:p.Gln1070His
XM_011536796.1:c.3102G>C	XP_011535098.1:p.Gln1034His
XR_429316.2:n.3338G>C
XR_943459.1:n.3338G>C
XM_005267691.5:c.3210G>C	XP_005267748.1:p.Gln1070His
XM_011536796.2:c.3102G>C	XP_011535098.1:p.Gln1034His
XM_017021335.2:c.3210G>C	XP_016876824.1:p.Gln1070His
XM_017021336.1:c.291G>C	XP_016876825.1:p.Gln97His
XR_429316.4:n.3336G>C
NM_001080414.4:c.3210G>C MANE Select	NP_001073883.2:p.Gln1070His