Canonical Allele Identifier: CA5217164

Gene: C5

Linked Data

• dbSNP Id: rs758246973
• ExAC: 9:123724938 G / C
• gnomAD v2: 9-123724938-G-C
• gnomAD v4: 9-120962660-G-C
• MyVariant Identifiers: chr9:g.123724938G>C (hg19) ; chr9:g.120962660G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962660G>C , CM000671.2:g.120962660G>C	GRCh38
NC_000009.11:g.123724938G>C , CM000671.1:g.123724938G>C	GRCh37
NC_000009.10:g.122764759G>C	NCBI36
NG_007364.1:g.92617C>G , LRG_28:g.92617C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000480188.2:n.1538+11C>G
ENST00000696279.1:c.4824+11C>G
ENST00000696280.1:n.4593+11C>G
ENST00000696281.1:c.4522+11C>G	ENSP00000512521.1:n.4522+11C>G
ENST00000697921.1:n.3382+11C>G
ENST00000697922.1:c.*4494+11C>G	ENSP00000513478.1:n.*4494+11C>G
ENST00000697923.1:n.4949+11C>G
ENST00000223642.3:c.4504+11C>G MANE Select	ENSP00000223642.1:n.4504+11C>G
ENST00000223642.2:c.4504+11C>G	ENSP00000223642.1:n.4504+11C>G
ENST00000480188.1:n.37+11C>G
NM_001735.2:c.4504+11C>G , LRG_28t1:c.4504+11C>G	NP_001726.2:n.4504+11C>G
XM_011518980.1:c.4519+11C>G	XP_011517282.1:n.4519+11C>G
NM_001317163.1:c.4522+11C>G	NP_001304092.1:n.4522+11C>G
NM_001317163.2:c.4522+11C>G	NP_001304092.1:n.4522+11C>G
NM_001735.3:c.4504+11C>G MANE Select	NP_001726.2:n.4504+11C>G