Canonical Allele Identifier: CA7308945

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 447019
• ClinVar RCV Id: RCV000765187 ; RCV000517040 ; RCV004553118 ; RCV002525023 ; RCV003441904
• dbSNP Id: rs201414940
• ExAC: 14:91749724 T / C
• gnomAD v2: 14-91749724-T-C
• gnomAD v3: 14-91283380-T-C
• gnomAD v4: 14-91283380-T-C
• MyVariant Identifiers: chr14:g.91749724T>C (hg19) ; chr14:g.91283380T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91283380T>C , CM000676.2:g.91283380T>C	GRCh38
NC_000014.8:g.91749724T>C , CM000676.1:g.91749724T>C	GRCh37
NC_000014.7:g.90819477T>C	NCBI36
NG_033118.1:g.139465A>G
NG_033118.2:g.139465A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4579A>G MANE Select	ENSP00000374507.6:p.Thr1527Ala
ENST00000331194.8:c.151A>G	ENSP00000330332.8:p.Thr51Ala
ENST00000334448.5:n.244A>G
ENST00000389857.10:c.4579A>G	ENSP00000374507.6:p.Thr1527Ala
ENST00000556726.5:c.807A>G
NM_001080414.3:c.4579A>G	NP_001073883.2:p.Thr1527Ala
XM_011536796.1:c.4471A>G	XP_011535098.1:p.Thr1491Ala
XR_429316.2:n.4707A>G
XR_943459.1:n.4707A>G
XM_011536796.2:c.4471A>G	XP_011535098.1:p.Thr1491Ala
XM_017021335.2:c.4579A>G	XP_016876824.1:p.Thr1527Ala
XM_017021336.1:c.1660A>G	XP_016876825.1:p.Thr554Ala
XR_429316.4:n.4705A>G
NM_001080414.4:c.4579A>G MANE Select	NP_001073883.2:p.Thr1527Ala