Canonical Allele Identifier: CA2691483621

Gene: C5

Linked Data

• dbSNP Id: rs1297254997
• gnomAD v4: 9-121006801-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.121006801G>A , CM000671.2:g.121006801G>A	GRCh38
NC_000009.11:g.123769079G>A , CM000671.1:g.123769079G>A	GRCh37
NC_000009.10:g.122808900G>A	NCBI36
NG_007364.1:g.48476C>T , LRG_28:g.48476C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000466280.2:c.1417+103C>T	ENSP00000513491.1:n.1417+103C>T
ENST00000696279.1:c.2742+103C>T
ENST00000696280.1:n.2511+103C>T
ENST00000696281.1:c.2440+103C>T	ENSP00000512521.1:n.2440+103C>T
ENST00000697921.1:n.1300+103C>T
ENST00000697922.1:c.*2412+103C>T	ENSP00000513478.1:n.*2412+103C>T
ENST00000697923.1:n.3027+103C>T
ENST00000223642.3:c.2422+103C>T MANE Select	ENSP00000223642.1:n.2422+103C>T
ENST00000223642.2:c.2422+103C>T	ENSP00000223642.1:n.2422+103C>T
ENST00000466280.1:n.25+103C>T
NM_001735.2:c.2422+103C>T , LRG_28t1:c.2422+103C>T	NP_001726.2:n.2422+103C>T
XM_011518980.1:c.2437+103C>T	XP_011517282.1:n.2437+103C>T
XM_011518981.1:c.2440+103C>T	XP_011517283.1:n.2440+103C>T
NM_001317163.1:c.2440+103C>T	NP_001304092.1:n.2440+103C>T
NM_001317164.1:c.2422+103C>T	NP_001304093.1:n.2422+103C>T
NM_001317163.2:c.2440+103C>T	NP_001304092.1:n.2440+103C>T
NM_001317164.2:c.2422+103C>T	NP_001304093.1:n.2422+103C>T
NM_001735.3:c.2422+103C>T MANE Select	NP_001726.2:n.2422+103C>T