Canonical Allele Identifier: CA466940808

Gene: C5

Linked Data

• dbSNP Id: rs373515982
• MyVariant Identifiers: chr9:g.123724983A>C (hg19)

Genomic Alleles

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

Transcript Alleles

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