Canonical Allele Identifier: CA8608536

Gene: FAM187A CCDC103 GFAP

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44904920A>G , CM000679.2:g.44904920A>G	GRCh38
NC_000017.10:g.42982288A>G , CM000679.1:g.42982288A>G	GRCh37
NC_000017.9:g.40337814A>G	NCBI36
NG_008401.1:g.15627T>C
NG_032792.1:g.10209A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331733.5:c.1091A>G (FAM187A) MANE Select	ENSP00000329499.4:p.His364Arg
ENST00000417826.3:c.*2103A>G (CCDC103) MANE Select	ENSP00000391692.2:n.*2103A>G
ENST00000441312.2:n.340T>C (GFAP)
ENST00000588735.3:c.*2427T>C (GFAP) MANE Select	ENSP00000466598.2:n.*2427T>C
ENST00000592065.2:n.855T>C (GFAP)
ENST00000638304.1:c.406T>C (GFAP)
ENST00000638400.1:c.322T>C (GFAP)
ENST00000638488.1:n.951T>C (GFAP)
ENST00000639042.1:c.809T>C (GFAP)
ENST00000639243.1:c.243T>C (GFAP)
ENST00000639277.1:c.1258-366T>C (GFAP)	ENSP00000492432.1:n.1258-366T>C
ENST00000639369.1:c.337T>C (GFAP)
ENST00000640545.1:c.64-366T>C (GFAP)	ENSP00000491735.1:n.64-366T>C
ENST00000640859.1:c.301T>C (GFAP)
ENST00000331733.4:c.1091A>G (FAM187A)	ENSP00000329499.4:p.His364Arg
ENST00000417826.2:c.*2103A>G (CCDC103)	ENSP00000391692.2:n.*2103A>G
NM_001258400.1:c.1091A>G (FAM187A)	NP_001245329.1:p.His364Arg
NM_002055.5:c.*2427T>C (GFAP) MANE Select	NP_002046.1:n.*2427T>C
NM_001258395.2:c.*2103A>G (CCDC103)	NP_001245324.1:n.*2103A>G
NM_001258396.2:c.*2103A>G (CCDC103)	NP_001245325.1:n.*2103A>G
NM_001258399.2:c.*2521A>G (CCDC103)	NP_001245328.1:n.*2521A>G
NM_213607.3:c.*2103A>G (CCDC103) MANE Select	NP_998772.1:n.*2103A>G
NM_001258397.3:c.*2582A>G (CCDC103)	NP_001245326.1:n.*2582A>G
NM_001258398.3:c.*2521A>G (CCDC103)	NP_001245327.1:n.*2521A>G
NM_001258400.2:c.1091A>G (FAM187A) MANE Select	NP_001245329.1:p.His364Arg