Canonical Allele Identifier: CA5217165

Gene: C5

Linked Data

• ClinVar Variation Id: 1435849
• ClinVar RCV Id: RCV001974585 ; RCV002492012
• dbSNP Id: rs137867011
• ExAC: 9:123724945 T / C
• gnomAD v2: 9-123724945-T-C
• gnomAD v3: 9-120962667-T-C
• gnomAD v4: 9-120962667-T-C
• MyVariant Identifiers: chr9:g.123724945T>C (hg19) ; chr9:g.120962667T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962667T>C , CM000671.2:g.120962667T>C	GRCh38
NC_000009.11:g.123724945T>C , CM000671.1:g.123724945T>C	GRCh37
NC_000009.10:g.122764766T>C	NCBI36
NG_007364.1:g.92610A>G , LRG_28:g.92610A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000480188.2:n.1538+4A>G
ENST00000696279.1:c.4824+4A>G
ENST00000696280.1:n.4593+4A>G
ENST00000696281.1:c.4522+4A>G	ENSP00000512521.1:n.4522+4A>G
ENST00000697921.1:n.3382+4A>G
ENST00000697922.1:c.*4494+4A>G	ENSP00000513478.1:n.*4494+4A>G
ENST00000697923.1:n.4949+4A>G
ENST00000223642.3:c.4504+4A>G MANE Select	ENSP00000223642.1:n.4504+4A>G
ENST00000223642.2:c.4504+4A>G	ENSP00000223642.1:n.4504+4A>G
ENST00000480188.1:n.37+4A>G
NM_001735.2:c.4504+4A>G , LRG_28t1:c.4504+4A>G	NP_001726.2:n.4504+4A>G
XM_011518980.1:c.4519+4A>G	XP_011517282.1:n.4519+4A>G
NM_001317163.1:c.4522+4A>G	NP_001304092.1:n.4522+4A>G
NM_001317163.2:c.4522+4A>G	NP_001304092.1:n.4522+4A>G
NM_001735.3:c.4504+4A>G MANE Select	NP_001726.2:n.4504+4A>G