Canonical Allele Identifier: CA5217248

Gene: C5

Linked Data

• dbSNP Id: rs755476276
• ExAC: 9:123731336 C / T
• gnomAD v2: 9-123731336-C-T
• gnomAD v4: 9-120969058-C-T
• MyVariant Identifiers: chr9:g.123731336C>T (hg19) ; chr9:g.120969058C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120969058C>T , CM000671.2:g.120969058C>T	GRCh38
NC_000009.11:g.123731336C>T , CM000671.1:g.123731336C>T	GRCh37
NC_000009.10:g.122771157C>T	NCBI36
NG_007364.1:g.86219G>A , LRG_28:g.86219G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000480188.2:n.1254+3G>A
ENST00000696279.1:c.4540+3G>A
ENST00000696280.1:n.4309+3G>A
ENST00000696281.1:c.4238+3G>A	ENSP00000512521.1:n.4238+3G>A
ENST00000697921.1:n.3098+3G>A
ENST00000697922.1:c.*4210+3G>A	ENSP00000513478.1:n.*4210+3G>A
ENST00000697923.1:n.4665+3G>A
ENST00000223642.3:c.4220+3G>A MANE Select	ENSP00000223642.1:n.4220+3G>A
ENST00000223642.2:c.4220+3G>A	ENSP00000223642.1:n.4220+3G>A
NM_001735.2:c.4220+3G>A , LRG_28t1:c.4220+3G>A	NP_001726.2:n.4220+3G>A
XM_011518980.1:c.4235+3G>A	XP_011517282.1:n.4235+3G>A
NM_001317163.1:c.4238+3G>A	NP_001304092.1:n.4238+3G>A
NM_001317163.2:c.4238+3G>A	NP_001304092.1:n.4238+3G>A
NM_001735.3:c.4220+3G>A MANE Select	NP_001726.2:n.4220+3G>A