Canonical Allele Identifier: CA260050

Gene: CCDC103 FAM187A

Linked Data

• ClinVar Variation Id: 31698
• ClinVar RCV Id: RCV000024376 ; RCV000226016 ; RCV000723879 ; RCV001327943 ; RCV003421933
• dbSNP Id: rs145457535
• ExAC: 17:42979917 A / C
• gnomAD v2: 17-42979917-A-C
• gnomAD v3: 17-44902549-A-C
• gnomAD v4: 17-44902549-A-C
• MyVariant Identifiers: chr17:g.42979917A>C (hg19) ; chr17:g.44902549A>C (hg38)
• PubMed: PMID:20301301 ; PMID:22581229

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44902549A>C , CM000679.2:g.44902549A>C	GRCh38
NC_000017.10:g.42979917A>C , CM000679.1:g.42979917A>C	GRCh37
NC_000017.9:g.40335443A>C	NCBI36
NG_032674.1:g.2077T>G
NG_032792.1:g.7838A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417826.3:c.461A>C (CCDC103) MANE Select	ENSP00000391692.2:p.His154Pro
ENST00000331733.4:c.-1281A>C (FAM187A)	ENSP00000329499.4:n.-1281A>C
ENST00000357776.6:c.461A>C (CCDC103)	ENSP00000350420.2:p.His154Pro
ENST00000410006.6:c.461A>C (CCDC103)	ENSP00000387252.1:p.His154Pro
ENST00000412523.3:c.461A>C (FAM187A)	ENSP00000391869.3:p.His154Pro
ENST00000417826.2:c.461A>C (CCDC103)	ENSP00000391692.2:p.His154Pro
NM_001258395.1:c.461A>C (CCDC103)	NP_001245324.1:p.His154Pro
NM_001258396.1:c.461A>C (CCDC103)	NP_001245325.1:p.His154Pro
NM_001258397.1:c.*211A>C (CCDC103)	NP_001245326.1:n.*211A>C
NM_001258398.1:c.*150A>C (CCDC103)	NP_001245327.1:n.*150A>C
NM_001258399.1:c.*150A>C (CCDC103)	NP_001245328.1:n.*150A>C
NM_213607.2:c.461A>C (CCDC103)	NP_998772.1:p.His154Pro
NM_001258395.2:c.461A>C (CCDC103)	NP_001245324.1:p.His154Pro
NM_001258396.2:c.461A>C (CCDC103)	NP_001245325.1:p.His154Pro
NM_001258398.2:c.*150A>C (CCDC103)	NP_001245327.1:n.*150A>C
NM_001258399.2:c.*150A>C (CCDC103)	NP_001245328.1:n.*150A>C
NM_213607.3:c.461A>C (CCDC103) MANE Select	NP_998772.1:p.His154Pro
NM_001258397.3:c.*211A>C (CCDC103)	NP_001245326.1:n.*211A>C
NM_001258398.3:c.*150A>C (CCDC103)	NP_001245327.1:n.*150A>C