Canonical Allele Identifier: CA5217171

Gene: C5

Linked Data

• ClinVar Variation Id: 1637136
• ClinVar RCV Id: RCV002130995
• dbSNP Id: rs373515982
• ExAC: 9:123724983 A / G
• gnomAD v2: 9-123724983-A-G
• gnomAD v3: 9-120962705-A-G
• gnomAD v4: 9-120962705-A-G
• MyVariant Identifiers: chr9:g.123724983A>G (hg19) ; chr9:g.120962705A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962705A>G , CM000671.2:g.120962705A>G	GRCh38
NC_000009.11:g.123724983A>G , CM000671.1:g.123724983A>G	GRCh37
NC_000009.10:g.122764804A>G	NCBI36
NG_007364.1:g.92572T>C , LRG_28:g.92572T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1504T>C
ENST00000696279.1:c.4790T>C
ENST00000696280.1:n.4559T>C
ENST00000696281.1:c.4488T>C	ENSP00000512521.1:p.Pro1496=
ENST00000697921.1:n.3348T>C
ENST00000697922.1:c.*4460T>C	ENSP00000513478.1:n.*4460T>C
ENST00000697923.1:n.4915T>C
ENST00000223642.3:c.4470T>C MANE Select	ENSP00000223642.1:p.Pro1490=
ENST00000223642.2:c.4470T>C	ENSP00000223642.1:p.Pro1490=
ENST00000480188.1:n.3T>C
NM_001735.2:c.4470T>C , LRG_28t1:c.4470T>C	NP_001726.2:p.Pro1490=
XM_011518980.1:c.4485T>C	XP_011517282.1:p.Pro1495=
NM_001317163.1:c.4488T>C	NP_001304092.1:p.Pro1496=
NM_001317163.2:c.4488T>C	NP_001304092.1:p.Pro1496=
NM_001735.3:c.4470T>C MANE Select	NP_001726.2:p.Pro1490=