Canonical Allele Identifier: CA374750787

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123731393G>C (hg19) ; chr9:g.120969115G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120969115G>C , CM000671.2:g.120969115G>C	GRCh38
NC_000009.11:g.123731393G>C , CM000671.1:g.123731393G>C	GRCh37
NC_000009.10:g.122771214G>C	NCBI36
NG_007364.1:g.86162C>G , LRG_28:g.86162C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1200C>G
ENST00000696279.1:c.4486C>G
ENST00000696280.1:n.4255C>G
ENST00000696281.1:c.4184C>G	ENSP00000512521.1:p.Ser1395Cys
ENST00000697921.1:n.3044C>G
ENST00000697922.1:c.*4156C>G	ENSP00000513478.1:n.*4156C>G
ENST00000697923.1:n.4611C>G
ENST00000223642.3:c.4166C>G MANE Select	ENSP00000223642.1:p.Ser1389Cys
ENST00000223642.2:c.4166C>G	ENSP00000223642.1:p.Ser1389Cys
NM_001735.2:c.4166C>G , LRG_28t1:c.4166C>G	NP_001726.2:p.Ser1389Cys
XM_011518980.1:c.4181C>G	XP_011517282.1:p.Ser1394Cys
NM_001317163.1:c.4184C>G	NP_001304092.1:p.Ser1395Cys
NM_001317163.2:c.4184C>G	NP_001304092.1:p.Ser1395Cys
NM_001735.3:c.4166C>G MANE Select	NP_001726.2:p.Ser1389Cys