Canonical Allele Identifier: CA199385876

Gene: C5

Linked Data

• ClinVar Variation Id: 2908044
• ClinVar RCV Id: RCV003727507
• dbSNP Id: rs1032063037
• gnomAD v4: 9-120962723-T-C
• MyVariant Identifiers: chr9:g.123725001T>C (hg19) ; chr9:g.120962723T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962723T>C , CM000671.2:g.120962723T>C	GRCh38
NC_000009.11:g.123725001T>C , CM000671.1:g.123725001T>C	GRCh37
NC_000009.10:g.122764822T>C	NCBI36
NG_007364.1:g.92554A>G , LRG_28:g.92554A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1486A>G
ENST00000696279.1:c.4772A>G
ENST00000696280.1:n.4541A>G
ENST00000696281.1:c.4470A>G	ENSP00000512521.1:p.Glu1490=
ENST00000697921.1:n.3330A>G
ENST00000697922.1:c.*4442A>G	ENSP00000513478.1:n.*4442A>G
ENST00000697923.1:n.4897A>G
ENST00000223642.3:c.4452A>G MANE Select	ENSP00000223642.1:p.Glu1484=
ENST00000223642.2:c.4452A>G	ENSP00000223642.1:p.Glu1484=
NM_001735.2:c.4452A>G , LRG_28t1:c.4452A>G	NP_001726.2:p.Glu1484=
XM_011518980.1:c.4467A>G	XP_011517282.1:p.Glu1489=
NM_001317163.1:c.4470A>G	NP_001304092.1:p.Glu1490=
NM_001317163.2:c.4470A>G	NP_001304092.1:p.Glu1490=
NM_001735.3:c.4452A>G MANE Select	NP_001726.2:p.Glu1484=