Canonical Allele Identifier: CA374746798
Gene: C5 HGNC NCBI

Linked Data

dbSNP Id: rs1389317305

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962761A>G , CM000671.2:g.120962761A>G GRCh38
NC_000009.11:g.123725039A>G , CM000671.1:g.123725039A>G GRCh37
NC_000009.10:g.122764860A>G NCBI36
NG_007364.1:g.92516T>C , LRG_28:g.92516T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1448T>C
ENST00000696279.1:c.4734T>C
ENST00000696280.1:n.4503T>C
ENST00000696281.1:c.4432T>C ENSP00000512521.1:p.Phe1478Leu
ENST00000697921.1:n.3292T>C
ENST00000697922.1:c.*4404T>C ENSP00000513478.1:n.*4404T>C
ENST00000697923.1:n.4859T>C
ENST00000223642.3:c.4414T>C MANE Select ENSP00000223642.1:p.Phe1472Leu
ENST00000223642.2:c.4414T>C ENSP00000223642.1:p.Phe1472Leu
NM_001735.2:c.4414T>C , LRG_28t1:c.4414T>C NP_001726.2:p.Phe1472Leu
XM_011518980.1:c.4429T>C XP_011517282.1:p.Phe1477Leu
NM_001317163.1:c.4432T>C NP_001304092.1:p.Phe1478Leu
NM_001317163.2:c.4432T>C NP_001304092.1:p.Phe1478Leu
NM_001735.3:c.4414T>C MANE Select NP_001726.2:p.Phe1472Leu