Canonical Allele Identifier: CA199349664

Gene: C5

Linked Data

• dbSNP Id: rs41311927
• gnomAD v2: 9-123742863-A-C
• gnomAD v3: 9-120980585-A-C
• gnomAD v4: 9-120980585-A-C
• MyVariant Identifiers: chr9:g.123742863A>C (hg19) ; chr9:g.120980585A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120980585A>C , CM000671.2:g.120980585A>C	GRCh38
NC_000009.11:g.123742863A>C , CM000671.1:g.123742863A>C	GRCh37
NC_000009.10:g.122782684A>C	NCBI36
NG_007364.1:g.74692T>G , LRG_28:g.74692T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000480188.2:n.398-331T>G
ENST00000696279.1:c.3807-331T>G
ENST00000696280.1:n.3576-331T>G
ENST00000696281.1:c.3505-331T>G	ENSP00000512521.1:n.3505-331T>G
ENST00000697921.1:n.2365-331T>G
ENST00000697922.1:c.*3477-331T>G	ENSP00000513478.1:n.*3477-331T>G
ENST00000697923.1:n.3932-331T>G
ENST00000223642.3:c.3487-331T>G MANE Select	ENSP00000223642.1:n.3487-331T>G
ENST00000223642.2:c.3487-331T>G	ENSP00000223642.1:n.3487-331T>G
ENST00000489802.1:n.50-331T>G
NM_001735.2:c.3487-331T>G , LRG_28t1:c.3487-331T>G	NP_001726.2:n.3487-331T>G
XM_011518980.1:c.3502-331T>G	XP_011517282.1:n.3502-331T>G
NM_001317163.1:c.3505-331T>G	NP_001304092.1:n.3505-331T>G
NM_001317163.2:c.3505-331T>G	NP_001304092.1:n.3505-331T>G
NM_001735.3:c.3487-331T>G MANE Select	NP_001726.2:n.3487-331T>G