Canonical Allele Identifier: CA199373717

Gene: C5

Linked Data

• dbSNP Id: rs41309880
• gnomAD v2: 9-123769116-A-G
• gnomAD v3: 9-121006838-A-G
• gnomAD v4: 9-121006838-A-G
• MyVariant Identifiers: chr9:g.123769116A>G (hg19) ; chr9:g.121006838A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.121006838A>G , CM000671.2:g.121006838A>G	GRCh38
NC_000009.11:g.123769116A>G , CM000671.1:g.123769116A>G	GRCh37
NC_000009.10:g.122808937A>G	NCBI36
NG_007364.1:g.48439T>C , LRG_28:g.48439T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000466280.2:c.1417+66T>C	ENSP00000513491.1:n.1417+66T>C
ENST00000696279.1:c.2742+66T>C
ENST00000696280.1:n.2511+66T>C
ENST00000696281.1:c.2440+66T>C	ENSP00000512521.1:n.2440+66T>C
ENST00000697921.1:n.1300+66T>C
ENST00000697922.1:c.*2412+66T>C	ENSP00000513478.1:n.*2412+66T>C
ENST00000697923.1:n.3027+66T>C
ENST00000223642.3:c.2422+66T>C MANE Select	ENSP00000223642.1:n.2422+66T>C
ENST00000223642.2:c.2422+66T>C	ENSP00000223642.1:n.2422+66T>C
ENST00000466280.1:n.25+66T>C
NM_001735.2:c.2422+66T>C , LRG_28t1:c.2422+66T>C	NP_001726.2:n.2422+66T>C
XM_011518980.1:c.2437+66T>C	XP_011517282.1:n.2437+66T>C
XM_011518981.1:c.2440+66T>C	XP_011517283.1:n.2440+66T>C
NM_001317163.1:c.2440+66T>C	NP_001304092.1:n.2440+66T>C
NM_001317164.1:c.2422+66T>C	NP_001304093.1:n.2422+66T>C
NM_001317163.2:c.2440+66T>C	NP_001304092.1:n.2440+66T>C
NM_001317164.2:c.2422+66T>C	NP_001304093.1:n.2422+66T>C
NM_001735.3:c.2422+66T>C MANE Select	NP_001726.2:n.2422+66T>C