Canonical Allele Identifier: CA2691483608

Gene: C5

Linked Data

• gnomAD v4: 9-121006765-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.121006765G>A , CM000671.2:g.121006765G>A	GRCh38
NC_000009.11:g.123769043G>A , CM000671.1:g.123769043G>A	GRCh37
NC_000009.10:g.122808864G>A	NCBI36
NG_007364.1:g.48512C>T , LRG_28:g.48512C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000466280.2:c.1417+139C>T	ENSP00000513491.1:n.1417+139C>T
ENST00000696279.1:c.2742+139C>T
ENST00000696280.1:n.2511+139C>T
ENST00000696281.1:c.2440+139C>T	ENSP00000512521.1:n.2440+139C>T
ENST00000697921.1:n.1300+139C>T
ENST00000697922.1:c.*2412+139C>T	ENSP00000513478.1:n.*2412+139C>T
ENST00000697923.1:n.3027+139C>T
ENST00000223642.3:c.2422+139C>T MANE Select	ENSP00000223642.1:n.2422+139C>T
ENST00000223642.2:c.2422+139C>T	ENSP00000223642.1:n.2422+139C>T
ENST00000466280.1:n.25+139C>T
NM_001735.2:c.2422+139C>T , LRG_28t1:c.2422+139C>T	NP_001726.2:n.2422+139C>T
XM_011518980.1:c.2437+139C>T	XP_011517282.1:n.2437+139C>T
XM_011518981.1:c.2440+139C>T	XP_011517283.1:n.2440+139C>T
NM_001317163.1:c.2440+139C>T	NP_001304092.1:n.2440+139C>T
NM_001317164.1:c.2422+139C>T	NP_001304093.1:n.2422+139C>T
NM_001317163.2:c.2440+139C>T	NP_001304092.1:n.2440+139C>T
NM_001317164.2:c.2422+139C>T	NP_001304093.1:n.2422+139C>T
NM_001735.3:c.2422+139C>T MANE Select	NP_001726.2:n.2422+139C>T