Canonical Allele Identifier: CA374746576

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123725014A>C (hg19) ; chr9:g.120962736A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962736A>C , CM000671.2:g.120962736A>C	GRCh38
NC_000009.11:g.123725014A>C , CM000671.1:g.123725014A>C	GRCh37
NC_000009.10:g.122764835A>C	NCBI36
NG_007364.1:g.92541T>G , LRG_28:g.92541T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1473T>G
ENST00000696279.1:c.4759T>G
ENST00000696280.1:n.4528T>G
ENST00000696281.1:c.4457T>G	ENSP00000512521.1:p.Phe1486Cys
ENST00000697921.1:n.3317T>G
ENST00000697922.1:c.*4429T>G	ENSP00000513478.1:n.*4429T>G
ENST00000697923.1:n.4884T>G
ENST00000223642.3:c.4439T>G MANE Select	ENSP00000223642.1:p.Phe1480Cys
ENST00000223642.2:c.4439T>G	ENSP00000223642.1:p.Phe1480Cys
NM_001735.2:c.4439T>G , LRG_28t1:c.4439T>G	NP_001726.2:p.Phe1480Cys
XM_011518980.1:c.4454T>G	XP_011517282.1:p.Phe1485Cys
NM_001317163.1:c.4457T>G	NP_001304092.1:p.Phe1486Cys
NM_001317163.2:c.4457T>G	NP_001304092.1:p.Phe1486Cys
NM_001735.3:c.4439T>G MANE Select	NP_001726.2:p.Phe1480Cys