Canonical Allele Identifier: CA590208718

Gene: C5

Linked Data

• dbSNP Id: rs1356351732
• gnomAD v2: 9-123769136-T-C
• gnomAD v3: 9-121006858-T-C
• gnomAD v4: 9-121006858-T-C
• MyVariant Identifiers: chr9:g.123769136T>C (hg19) ; chr9:g.121006858T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.121006858T>C , CM000671.2:g.121006858T>C	GRCh38
NC_000009.11:g.123769136T>C , CM000671.1:g.123769136T>C	GRCh37
NC_000009.10:g.122808957T>C	NCBI36
NG_007364.1:g.48419A>G , LRG_28:g.48419A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000466280.2:c.1417+46A>G	ENSP00000513491.1:n.1417+46A>G
ENST00000696279.1:c.2742+46A>G
ENST00000696280.1:n.2511+46A>G
ENST00000696281.1:c.2440+46A>G	ENSP00000512521.1:n.2440+46A>G
ENST00000697921.1:n.1300+46A>G
ENST00000697922.1:c.*2412+46A>G	ENSP00000513478.1:n.*2412+46A>G
ENST00000697923.1:n.3027+46A>G
ENST00000223642.3:c.2422+46A>G MANE Select	ENSP00000223642.1:n.2422+46A>G
ENST00000223642.2:c.2422+46A>G	ENSP00000223642.1:n.2422+46A>G
ENST00000466280.1:n.25+46A>G
NM_001735.2:c.2422+46A>G , LRG_28t1:c.2422+46A>G	NP_001726.2:n.2422+46A>G
XM_011518980.1:c.2437+46A>G	XP_011517282.1:n.2437+46A>G
XM_011518981.1:c.2440+46A>G	XP_011517283.1:n.2440+46A>G
NM_001317163.1:c.2440+46A>G	NP_001304092.1:n.2440+46A>G
NM_001317164.1:c.2422+46A>G	NP_001304093.1:n.2422+46A>G
NM_001317163.2:c.2440+46A>G	NP_001304092.1:n.2440+46A>G
NM_001317164.2:c.2422+46A>G	NP_001304093.1:n.2422+46A>G
NM_001735.3:c.2422+46A>G MANE Select	NP_001726.2:n.2422+46A>G