Canonical Allele Identifier: CA1128786500

Gene: C5

Linked Data

• dbSNP Id: rs2046839155
• gnomAD v3: 9-120963033-G-C
• gnomAD v4: 9-120963033-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120963033G>C , CM000671.2:g.120963033G>C	GRCh38
NC_000009.11:g.123725311G>C , CM000671.1:g.123725311G>C	GRCh37
NC_000009.10:g.122765132G>C	NCBI36
NG_007364.1:g.92244C>G , LRG_28:g.92244C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1358-66C>G
ENST00000696279.1:c.4644-66C>G
ENST00000696280.1:n.4413-66C>G
ENST00000696281.1:c.4342-66C>G	ENSP00000512521.1:n.4342-66C>G
ENST00000697921.1:n.3202-66C>G
ENST00000697922.1:c.*4314-66C>G	ENSP00000513478.1:n.*4314-66C>G
ENST00000697923.1:n.4769-66C>G
ENST00000223642.3:c.4324-66C>G MANE Select	ENSP00000223642.1:n.4324-66C>G
ENST00000223642.2:c.4324-66C>G	ENSP00000223642.1:n.4324-66C>G
NM_001735.2:c.4324-66C>G , LRG_28t1:c.4324-66C>G	NP_001726.2:n.4324-66C>G
XM_011518980.1:c.4339-66C>G	XP_011517282.1:n.4339-66C>G
NM_001317163.1:c.4342-66C>G	NP_001304092.1:n.4342-66C>G
NM_001317163.2:c.4342-66C>G	NP_001304092.1:n.4342-66C>G
NM_001735.3:c.4324-66C>G MANE Select	NP_001726.2:n.4324-66C>G