Canonical Allele Identifier: CA2691480462

Gene: C5

Linked Data

• gnomAD v4: 9-120962838-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962838C>A , CM000671.2:g.120962838C>A	GRCh38
NC_000009.11:g.123725116C>A , CM000671.1:g.123725116C>A	GRCh37
NC_000009.10:g.122764937C>A	NCBI36
NG_007364.1:g.92439G>T , LRG_28:g.92439G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1432+55G>T
ENST00000696279.1:c.4718+55G>T
ENST00000696280.1:n.4487+55G>T
ENST00000696281.1:c.4416+55G>T	ENSP00000512521.1:n.4416+55G>T
ENST00000697921.1:n.3276+55G>T
ENST00000697922.1:c.*4388+55G>T	ENSP00000513478.1:n.*4388+55G>T
ENST00000697923.1:n.4843+55G>T
ENST00000223642.3:c.4398+55G>T MANE Select	ENSP00000223642.1:n.4398+55G>T
ENST00000223642.2:c.4398+55G>T	ENSP00000223642.1:n.4398+55G>T
NM_001735.2:c.4398+55G>T , LRG_28t1:c.4398+55G>T	NP_001726.2:n.4398+55G>T
XM_011518980.1:c.4413+55G>T	XP_011517282.1:n.4413+55G>T
NM_001317163.1:c.4416+55G>T	NP_001304092.1:n.4416+55G>T
NM_001317163.2:c.4416+55G>T	NP_001304092.1:n.4416+55G>T
NM_001735.3:c.4398+55G>T MANE Select	NP_001726.2:n.4398+55G>T