Canonical Allele Identifier: CA374746707

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123725031A>C (hg19) ; chr9:g.120962753A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962753A>C , CM000671.2:g.120962753A>C	GRCh38
NC_000009.11:g.123725031A>C , CM000671.1:g.123725031A>C	GRCh37
NC_000009.10:g.122764852A>C	NCBI36
NG_007364.1:g.92524T>G , LRG_28:g.92524T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000480188.2:n.1456T>G
ENST00000696279.1:c.4742T>G
ENST00000696280.1:n.4511T>G
ENST00000696281.1:c.4440T>G	ENSP00000512521.1:p.Cys1480Trp
ENST00000697921.1:n.3300T>G
ENST00000697922.1:c.*4412T>G	ENSP00000513478.1:n.*4412T>G
ENST00000697923.1:n.4867T>G
ENST00000223642.3:c.4422T>G MANE Select	ENSP00000223642.1:p.Cys1474Trp
ENST00000223642.2:c.4422T>G	ENSP00000223642.1:p.Cys1474Trp
NM_001735.2:c.4422T>G , LRG_28t1:c.4422T>G	NP_001726.2:p.Cys1474Trp
XM_011518980.1:c.4437T>G	XP_011517282.1:p.Cys1479Trp
NM_001317163.1:c.4440T>G	NP_001304092.1:p.Cys1480Trp
NM_001317163.2:c.4440T>G	NP_001304092.1:p.Cys1480Trp
NM_001735.3:c.4422T>G MANE Select	NP_001726.2:p.Cys1474Trp