Canonical Allele Identifier: CA399829313

Gene: CCDC103 FAM187A

Linked Data

• dbSNP Id: rs1298827803
• gnomAD v2: 17-42979920-T-C
• gnomAD v4: 17-44902552-T-C
• MyVariant Identifiers: chr17:g.42979920T>C (hg19) ; chr17:g.44902552T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44902552T>C , CM000679.2:g.44902552T>C	GRCh38
NC_000017.10:g.42979920T>C , CM000679.1:g.42979920T>C	GRCh37
NC_000017.9:g.40335446T>C	NCBI36
NG_032674.1:g.2074A>G
NG_032792.1:g.7841T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000417826.3:c.464T>C (CCDC103) MANE Select	ENSP00000391692.2:p.Val155Ala
ENST00000331733.4:c.-1278T>C (FAM187A)	ENSP00000329499.4:n.-1278T>C
ENST00000357776.6:c.464T>C (CCDC103)	ENSP00000350420.2:p.Val155Ala
ENST00000410006.6:c.464T>C (CCDC103)	ENSP00000387252.1:p.Val155Ala
ENST00000412523.3:c.464T>C (FAM187A)	ENSP00000391869.3:p.Val155Ala
ENST00000417826.2:c.464T>C (CCDC103)	ENSP00000391692.2:p.Val155Ala
NM_001258395.1:c.464T>C (CCDC103)	NP_001245324.1:p.Val155Ala
NM_001258396.1:c.464T>C (CCDC103)	NP_001245325.1:p.Val155Ala
NM_001258397.1:c.*214T>C (CCDC103)	NP_001245326.1:n.*214T>C
NM_001258398.1:c.*153T>C (CCDC103)	NP_001245327.1:n.*153T>C
NM_001258399.1:c.*153T>C (CCDC103)	NP_001245328.1:n.*153T>C
NM_213607.2:c.464T>C (CCDC103)	NP_998772.1:p.Val155Ala
NM_001258395.2:c.464T>C (CCDC103)	NP_001245324.1:p.Val155Ala
NM_001258396.2:c.464T>C (CCDC103)	NP_001245325.1:p.Val155Ala
NM_001258398.2:c.*153T>C (CCDC103)	NP_001245327.1:n.*153T>C
NM_001258399.2:c.*153T>C (CCDC103)	NP_001245328.1:n.*153T>C
NM_213607.3:c.464T>C (CCDC103) MANE Select	NP_998772.1:p.Val155Ala
NM_001258397.3:c.*214T>C (CCDC103)	NP_001245326.1:n.*214T>C
NM_001258398.3:c.*153T>C (CCDC103)	NP_001245327.1:n.*153T>C