Canonical Allele Identifier: CA2579451043

Gene: C5

Linked Data

• gnomAD v4: 9-121006856-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.121006856G>T , CM000671.2:g.121006856G>T	GRCh38
NC_000009.11:g.123769134G>T , CM000671.1:g.123769134G>T	GRCh37
NC_000009.10:g.122808955G>T	NCBI36
NG_007364.1:g.48421C>A , LRG_28:g.48421C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000466280.2:c.1417+48C>A	ENSP00000513491.1:n.1417+48C>A
ENST00000696279.1:c.2742+48C>A
ENST00000696280.1:n.2511+48C>A
ENST00000696281.1:c.2440+48C>A	ENSP00000512521.1:n.2440+48C>A
ENST00000697921.1:n.1300+48C>A
ENST00000697922.1:c.*2412+48C>A	ENSP00000513478.1:n.*2412+48C>A
ENST00000697923.1:n.3027+48C>A
ENST00000223642.3:c.2422+48C>A MANE Select	ENSP00000223642.1:n.2422+48C>A
ENST00000223642.2:c.2422+48C>A	ENSP00000223642.1:n.2422+48C>A
ENST00000466280.1:n.25+48C>A
NM_001735.2:c.2422+48C>A , LRG_28t1:c.2422+48C>A	NP_001726.2:n.2422+48C>A
XM_011518980.1:c.2437+48C>A	XP_011517282.1:n.2437+48C>A
XM_011518981.1:c.2440+48C>A	XP_011517283.1:n.2440+48C>A
NM_001317163.1:c.2440+48C>A	NP_001304092.1:n.2440+48C>A
NM_001317164.1:c.2422+48C>A	NP_001304093.1:n.2422+48C>A
NM_001317163.2:c.2440+48C>A	NP_001304092.1:n.2440+48C>A
NM_001317164.2:c.2422+48C>A	NP_001304093.1:n.2422+48C>A
NM_001735.3:c.2422+48C>A MANE Select	NP_001726.2:n.2422+48C>A