Canonical Allele Identifier: CA466940973
Gene: C5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.123725049G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962771G>T , CM000671.2:g.120962771G>T GRCh38
NC_000009.11:g.123725049G>T , CM000671.1:g.123725049G>T GRCh37
NC_000009.10:g.122764870G>T NCBI36
NG_007364.1:g.92506C>A , LRG_28:g.92506C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1438C>A
ENST00000696279.1:c.4724C>A
ENST00000696280.1:n.4493C>A
ENST00000696281.1:c.4422C>A ENSP00000512521.1:p.Pro1474=
ENST00000697921.1:n.3282C>A
ENST00000697922.1:c.*4394C>A ENSP00000513478.1:n.*4394C>A
ENST00000697923.1:n.4849C>A
ENST00000223642.3:c.4404C>A MANE Select ENSP00000223642.1:p.Pro1468=
ENST00000223642.2:c.4404C>A ENSP00000223642.1:p.Pro1468=
NM_001735.2:c.4404C>A , LRG_28t1:c.4404C>A NP_001726.2:p.Pro1468=
XM_011518980.1:c.4419C>A XP_011517282.1:p.Pro1473=
NM_001317163.1:c.4422C>A NP_001304092.1:p.Pro1474=
NM_001317163.2:c.4422C>A NP_001304092.1:p.Pro1474=
NM_001735.3:c.4404C>A MANE Select NP_001726.2:p.Pro1468=