Canonical Allele Identifier: CA1128784038

Gene: C5

Linked Data

• dbSNP Id: rs2046770545
• gnomAD v3: 9-120954462-C-G
• gnomAD v4: 9-120954462-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120954462C>G , CM000671.2:g.120954462C>G	GRCh38
NC_000009.11:g.123716740C>G , CM000671.1:g.123716740C>G	GRCh37
NC_000009.10:g.122756561C>G	NCBI36
NG_007364.1:g.100815G>C , LRG_28:g.100815G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.4619G>C
ENST00000696279.1:c.5083-594G>C
ENST00000696280.1:n.4852-594G>C
ENST00000696281.1:c.4781-594G>C	ENSP00000512521.1:n.4781-594G>C
ENST00000697921.1:n.3641-594G>C
ENST00000697922.1:c.*4753-594G>C	ENSP00000513478.1:n.*4753-594G>C
ENST00000697923.1:n.8030G>C
ENST00000223642.3:c.4763-594G>C MANE Select	ENSP00000223642.1:n.4763-594G>C
ENST00000223642.2:c.4763-594G>C	ENSP00000223642.1:n.4763-594G>C
NM_001735.2:c.4763-594G>C , LRG_28t1:c.4763-594G>C	NP_001726.2:n.4763-594G>C
XM_011518980.1:c.4778-594G>C	XP_011517282.1:n.4778-594G>C
NM_001317163.1:c.4781-594G>C	NP_001304092.1:n.4781-594G>C
NM_001317163.2:c.4781-594G>C	NP_001304092.1:n.4781-594G>C
NM_001735.3:c.4763-594G>C MANE Select	NP_001726.2:n.4763-594G>C