Canonical Allele Identifier: CA590208703

Gene: C5

Linked Data

• dbSNP Id: rs1391474387
• gnomAD v2: 9-123769031-T-C
• gnomAD v3: 9-121006753-T-C
• gnomAD v4: 9-121006753-T-C
• MyVariant Identifiers: chr9:g.123769031T>C (hg19) ; chr9:g.121006753T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.121006753T>C , CM000671.2:g.121006753T>C	GRCh38
NC_000009.11:g.123769031T>C , CM000671.1:g.123769031T>C	GRCh37
NC_000009.10:g.122808852T>C	NCBI36
NG_007364.1:g.48524A>G , LRG_28:g.48524A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000466280.2:c.1417+151A>G	ENSP00000513491.1:n.1417+151A>G
ENST00000696279.1:c.2742+151A>G
ENST00000696280.1:n.2511+151A>G
ENST00000696281.1:c.2440+151A>G	ENSP00000512521.1:n.2440+151A>G
ENST00000697921.1:n.1300+151A>G
ENST00000697922.1:c.*2412+151A>G	ENSP00000513478.1:n.*2412+151A>G
ENST00000697923.1:n.3027+151A>G
ENST00000223642.3:c.2422+151A>G MANE Select	ENSP00000223642.1:n.2422+151A>G
ENST00000223642.2:c.2422+151A>G	ENSP00000223642.1:n.2422+151A>G
ENST00000466280.1:n.25+151A>G
NM_001735.2:c.2422+151A>G , LRG_28t1:c.2422+151A>G	NP_001726.2:n.2422+151A>G
XM_011518980.1:c.2437+151A>G	XP_011517282.1:n.2437+151A>G
XM_011518981.1:c.2440+151A>G	XP_011517283.1:n.2440+151A>G
NM_001317163.1:c.2440+151A>G	NP_001304092.1:n.2440+151A>G
NM_001317164.1:c.2422+151A>G	NP_001304093.1:n.2422+151A>G
NM_001317163.2:c.2440+151A>G	NP_001304092.1:n.2440+151A>G
NM_001317164.2:c.2422+151A>G	NP_001304093.1:n.2422+151A>G
NM_001735.3:c.2422+151A>G MANE Select	NP_001726.2:n.2422+151A>G