Canonical Allele Identifier: CA399829295

Gene: CCDC103 FAM187A

Linked Data

• gnomAD v4: 17-44902549-A-G
• MyVariant Identifiers: chr17:g.42979917A>G (hg19) ; chr17:g.44902549A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417826.3:c.461A>G (CCDC103) MANE Select	ENSP00000391692.2:p.His154Arg
ENST00000331733.4:c.-1281A>G (FAM187A)	ENSP00000329499.4:n.-1281A>G
ENST00000357776.6:c.461A>G (CCDC103)	ENSP00000350420.2:p.His154Arg
ENST00000410006.6:c.461A>G (CCDC103)	ENSP00000387252.1:p.His154Arg
ENST00000412523.3:c.461A>G (FAM187A)	ENSP00000391869.3:p.His154Arg
ENST00000417826.2:c.461A>G (CCDC103)	ENSP00000391692.2:p.His154Arg
NM_001258395.1:c.461A>G (CCDC103)	NP_001245324.1:p.His154Arg
NM_001258396.1:c.461A>G (CCDC103)	NP_001245325.1:p.His154Arg
NM_001258397.1:c.*211A>G (CCDC103)	NP_001245326.1:n.*211A>G
NM_001258398.1:c.*150A>G (CCDC103)	NP_001245327.1:n.*150A>G
NM_001258399.1:c.*150A>G (CCDC103)	NP_001245328.1:n.*150A>G
NM_213607.2:c.461A>G (CCDC103)	NP_998772.1:p.His154Arg
NM_001258395.2:c.461A>G (CCDC103)	NP_001245324.1:p.His154Arg
NM_001258396.2:c.461A>G (CCDC103)	NP_001245325.1:p.His154Arg
NM_001258398.2:c.*150A>G (CCDC103)	NP_001245327.1:n.*150A>G
NM_001258399.2:c.*150A>G (CCDC103)	NP_001245328.1:n.*150A>G
NM_213607.3:c.461A>G (CCDC103) MANE Select	NP_998772.1:p.His154Arg
NM_001258397.3:c.*211A>G (CCDC103)	NP_001245326.1:n.*211A>G
NM_001258398.3:c.*150A>G (CCDC103)	NP_001245327.1:n.*150A>G