Canonical Allele Identifier: CA5217166

Gene: C5

Linked Data

• dbSNP Id: rs534785208
• ExAC: 9:123724950 T / C
• gnomAD v2: 9-123724950-T-C
• gnomAD v3: 9-120962672-T-C
• gnomAD v4: 9-120962672-T-C
• MyVariant Identifiers: chr9:g.123724950T>C (hg19) ; chr9:g.120962672T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962672T>C , CM000671.2:g.120962672T>C	GRCh38
NC_000009.11:g.123724950T>C , CM000671.1:g.123724950T>C	GRCh37
NC_000009.10:g.122764771T>C	NCBI36
NG_007364.1:g.92605A>G , LRG_28:g.92605A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000480188.2:n.1537A>G
ENST00000696279.1:c.4823A>G
ENST00000696280.1:n.4592A>G
ENST00000696281.1:c.4521A>G	ENSP00000512521.1:p.Pro1507=
ENST00000697921.1:n.3381A>G
ENST00000697922.1:c.*4493A>G	ENSP00000513478.1:n.*4493A>G
ENST00000697923.1:n.4948A>G
ENST00000223642.3:c.4503A>G MANE Select	ENSP00000223642.1:p.Pro1501=
ENST00000223642.2:c.4503A>G	ENSP00000223642.1:p.Pro1501=
ENST00000480188.1:n.36A>G
NM_001735.2:c.4503A>G , LRG_28t1:c.4503A>G	NP_001726.2:p.Pro1501=
XM_011518980.1:c.4518A>G	XP_011517282.1:p.Pro1506=
NM_001317163.1:c.4521A>G	NP_001304092.1:p.Pro1507=
NM_001317163.2:c.4521A>G	NP_001304092.1:p.Pro1507=
NM_001735.3:c.4503A>G MANE Select	NP_001726.2:p.Pro1501=