Canonical Allele Identifier: CA2580073277
Community Standard Title: NM_001737.5(C9):c.1416+4A>G
Gene: C9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.39306613T>C , CM000667.2:g.39306613T>C GRCh38
NC_000005.9:g.39306715T>C , CM000667.1:g.39306715T>C GRCh37
NC_000005.8:g.39342472T>C NCBI36
NG_009894.1:g.62941A>G , LRG_32:g.62941A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001737.5:c.1416+4A>G MANE Select NP_001728.1:n.1416+4A>G
ENST00000263408.5:c.1416+4A>G MANE Select ENSP00000263408.4:n.1416+4A>G
NM_001737.3:c.1416+4A>G , LRG_32t1:c.1416+4A>G NP_001728.1:n.1416+4A>G
NM_001737.4:c.1416+4A>G NP_001728.1:n.1416+4A>G
ENST00000263408.4:c.1416+4A>G ENSP00000263408.4:n.1416+4A>G
ENST00000509186.6:c.1344+4A>G ENSP00000512235.1:n.1344+4A>G
ENST00000695880.1:c.1287+4A>G ENSP00000512236.1:n.1287+4A>G
ENST00000695881.1:c.1416+4A>G ENSP00000512237.1:n.1416+4A>G
ENST00000695882.1:n.643+4A>G