Canonical Allele Identifier: CA399829348

Gene: CCDC103 FAM187A

Linked Data

• ClinVar Variation Id: 1040127
• ClinVar RCV Id: RCV001343714
• dbSNP Id: rs1159140845
• gnomAD v2: 17-42979926-C-T
• gnomAD v3: 17-44902558-C-T
• gnomAD v4: 17-44902558-C-T
• MyVariant Identifiers: chr17:g.42979926C>T (hg19) ; chr17:g.44902558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44902558C>T , CM000679.2:g.44902558C>T	GRCh38
NC_000017.10:g.42979926C>T , CM000679.1:g.42979926C>T	GRCh37
NC_000017.9:g.40335452C>T	NCBI36
NG_032674.1:g.2068G>A
NG_032792.1:g.7847C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000417826.3:c.470C>T (CCDC103) MANE Select	ENSP00000391692.2:p.Pro157Leu
ENST00000331733.4:c.-1272C>T (FAM187A)	ENSP00000329499.4:n.-1272C>T
ENST00000357776.6:c.470C>T (CCDC103)	ENSP00000350420.2:p.Pro157Leu
ENST00000410006.6:c.470C>T (CCDC103)	ENSP00000387252.1:p.Pro157Leu
ENST00000412523.3:c.470C>T (FAM187A)	ENSP00000391869.3:p.Pro157Leu
ENST00000417826.2:c.470C>T (CCDC103)	ENSP00000391692.2:p.Pro157Leu
NM_001258395.1:c.470C>T (CCDC103)	NP_001245324.1:p.Pro157Leu
NM_001258396.1:c.470C>T (CCDC103)	NP_001245325.1:p.Pro157Leu
NM_001258397.1:c.*220C>T (CCDC103)	NP_001245326.1:n.*220C>T
NM_001258398.1:c.*159C>T (CCDC103)	NP_001245327.1:n.*159C>T
NM_001258399.1:c.*159C>T (CCDC103)	NP_001245328.1:n.*159C>T
NM_213607.2:c.470C>T (CCDC103)	NP_998772.1:p.Pro157Leu
NM_001258395.2:c.470C>T (CCDC103)	NP_001245324.1:p.Pro157Leu
NM_001258396.2:c.470C>T (CCDC103)	NP_001245325.1:p.Pro157Leu
NM_001258398.2:c.*159C>T (CCDC103)	NP_001245327.1:n.*159C>T
NM_001258399.2:c.*159C>T (CCDC103)	NP_001245328.1:n.*159C>T
NM_213607.3:c.470C>T (CCDC103) MANE Select	NP_998772.1:p.Pro157Leu
NM_001258397.3:c.*220C>T (CCDC103)	NP_001245326.1:n.*220C>T
NM_001258398.3:c.*159C>T (CCDC103)	NP_001245327.1:n.*159C>T