Canonical Allele Identifier: CA199385550

Gene: C5

Linked Data

• dbSNP Id: rs1004842630
• gnomAD v2: 9-123724530-T-C
• gnomAD v3: 9-120962252-T-C
• gnomAD v4: 9-120962252-T-C
• MyVariant Identifiers: chr9:g.123724530T>C (hg19) ; chr9:g.120962252T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962252T>C , CM000671.2:g.120962252T>C	GRCh38
NC_000009.11:g.123724530T>C , CM000671.1:g.123724530T>C	GRCh37
NC_000009.10:g.122764351T>C	NCBI36
NG_007364.1:g.93025A>G , LRG_28:g.93025A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1538+419A>G
ENST00000696279.1:c.4824+419A>G
ENST00000696280.1:n.4593+419A>G
ENST00000696281.1:c.4522+419A>G	ENSP00000512521.1:n.4522+419A>G
ENST00000697921.1:n.3382+419A>G
ENST00000697922.1:c.*4494+419A>G	ENSP00000513478.1:n.*4494+419A>G
ENST00000697923.1:n.4949+419A>G
ENST00000223642.3:c.4504+419A>G MANE Select	ENSP00000223642.1:n.4504+419A>G
ENST00000223642.2:c.4504+419A>G	ENSP00000223642.1:n.4504+419A>G
ENST00000480188.1:n.37+419A>G
NM_001735.2:c.4504+419A>G , LRG_28t1:c.4504+419A>G	NP_001726.2:n.4504+419A>G
XM_011518980.1:c.4519+419A>G	XP_011517282.1:n.4519+419A>G
NM_001317163.1:c.4522+419A>G	NP_001304092.1:n.4522+419A>G
NM_001317163.2:c.4522+419A>G	NP_001304092.1:n.4522+419A>G
NM_001735.3:c.4504+419A>G MANE Select	NP_001726.2:n.4504+419A>G