Canonical Allele Identifier: CA1876865620

Gene: C5

Linked Data

• dbSNP Id: rs2046832697

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962220G>C , CM000671.2:g.120962220G>C	GRCh38
NC_000009.11:g.123724498G>C , CM000671.1:g.123724498G>C	GRCh37
NC_000009.10:g.122764319G>C	NCBI36
NG_007364.1:g.93057C>G , LRG_28:g.93057C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1538+451C>G
ENST00000696279.1:c.4824+451C>G
ENST00000696280.1:n.4593+451C>G
ENST00000696281.1:c.4522+451C>G	ENSP00000512521.1:n.4522+451C>G
ENST00000697921.1:n.3382+451C>G
ENST00000697922.1:c.*4494+451C>G	ENSP00000513478.1:n.*4494+451C>G
ENST00000697923.1:n.4949+451C>G
ENST00000223642.3:c.4504+451C>G MANE Select	ENSP00000223642.1:n.4504+451C>G
ENST00000223642.2:c.4504+451C>G	ENSP00000223642.1:n.4504+451C>G
ENST00000480188.1:n.37+451C>G
NM_001735.2:c.4504+451C>G , LRG_28t1:c.4504+451C>G	NP_001726.2:n.4504+451C>G
XM_011518980.1:c.4519+451C>G	XP_011517282.1:n.4519+451C>G
NM_001317163.1:c.4522+451C>G	NP_001304092.1:n.4522+451C>G
NM_001317163.2:c.4522+451C>G	NP_001304092.1:n.4522+451C>G
NM_001735.3:c.4504+451C>G MANE Select	NP_001726.2:n.4504+451C>G