Canonical Allele Identifier: CA1128791372

Gene: C5

Linked Data

• dbSNP Id: rs2047219848
• gnomAD v3: 9-121006861-T-C
• gnomAD v4: 9-121006861-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.121006861T>C , CM000671.2:g.121006861T>C	GRCh38
NC_000009.11:g.123769139T>C , CM000671.1:g.123769139T>C	GRCh37
NC_000009.10:g.122808960T>C	NCBI36
NG_007364.1:g.48416A>G , LRG_28:g.48416A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000466280.2:c.1417+43A>G	ENSP00000513491.1:n.1417+43A>G
ENST00000696279.1:c.2742+43A>G
ENST00000696280.1:n.2511+43A>G
ENST00000696281.1:c.2440+43A>G	ENSP00000512521.1:n.2440+43A>G
ENST00000697921.1:n.1300+43A>G
ENST00000697922.1:c.*2412+43A>G	ENSP00000513478.1:n.*2412+43A>G
ENST00000697923.1:n.3027+43A>G
ENST00000223642.3:c.2422+43A>G MANE Select	ENSP00000223642.1:n.2422+43A>G
ENST00000223642.2:c.2422+43A>G	ENSP00000223642.1:n.2422+43A>G
ENST00000466280.1:n.25+43A>G
NM_001735.2:c.2422+43A>G , LRG_28t1:c.2422+43A>G	NP_001726.2:n.2422+43A>G
XM_011518980.1:c.2437+43A>G	XP_011517282.1:n.2437+43A>G
XM_011518981.1:c.2440+43A>G	XP_011517283.1:n.2440+43A>G
NM_001317163.1:c.2440+43A>G	NP_001304092.1:n.2440+43A>G
NM_001317164.1:c.2422+43A>G	NP_001304093.1:n.2422+43A>G
NM_001317163.2:c.2440+43A>G	NP_001304092.1:n.2440+43A>G
NM_001317164.2:c.2422+43A>G	NP_001304093.1:n.2422+43A>G
NM_001735.3:c.2422+43A>G MANE Select	NP_001726.2:n.2422+43A>G