Canonical Allele Identifier: CA1876865646
Gene: C5 HGNC NCBI

Linked Data

dbSNP Id: rs2046833198

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962285G>T , CM000671.2:g.120962285G>T GRCh38
NC_000009.11:g.123724563G>T , CM000671.1:g.123724563G>T GRCh37
NC_000009.10:g.122764384G>T NCBI36
NG_007364.1:g.92992C>A , LRG_28:g.92992C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1538+386C>A
ENST00000696279.1:c.4824+386C>A
ENST00000696280.1:n.4593+386C>A
ENST00000696281.1:c.4522+386C>A ENSP00000512521.1:n.4522+386C>A
ENST00000697921.1:n.3382+386C>A
ENST00000697922.1:c.*4494+386C>A ENSP00000513478.1:n.*4494+386C>A
ENST00000697923.1:n.4949+386C>A
ENST00000223642.3:c.4504+386C>A MANE Select ENSP00000223642.1:n.4504+386C>A
ENST00000223642.2:c.4504+386C>A ENSP00000223642.1:n.4504+386C>A
ENST00000480188.1:n.37+386C>A
NM_001735.2:c.4504+386C>A , LRG_28t1:c.4504+386C>A NP_001726.2:n.4504+386C>A
XM_011518980.1:c.4519+386C>A XP_011517282.1:n.4519+386C>A
NM_001317163.1:c.4522+386C>A NP_001304092.1:n.4522+386C>A
NM_001317163.2:c.4522+386C>A NP_001304092.1:n.4522+386C>A
NM_001735.3:c.4504+386C>A MANE Select NP_001726.2:n.4504+386C>A