Canonical Allele Identifier: CA374745982

Gene: C5

Linked Data

• gnomAD v4: 9-120962676-C-A
• MyVariant Identifiers: chr9:g.123724954C>A (hg19) ; chr9:g.120962676C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962676C>A , CM000671.2:g.120962676C>A	GRCh38
NC_000009.11:g.123724954C>A , CM000671.1:g.123724954C>A	GRCh37
NC_000009.10:g.122764775C>A	NCBI36
NG_007364.1:g.92601G>T , LRG_28:g.92601G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000480188.2:n.1533G>T
ENST00000696279.1:c.4819G>T
ENST00000696280.1:n.4588G>T
ENST00000696281.1:c.4517G>T	ENSP00000512521.1:p.Arg1506Ile
ENST00000697921.1:n.3377G>T
ENST00000697922.1:c.*4489G>T	ENSP00000513478.1:n.*4489G>T
ENST00000697923.1:n.4944G>T
ENST00000223642.3:c.4499G>T MANE Select	ENSP00000223642.1:p.Arg1500Ile
ENST00000223642.2:c.4499G>T	ENSP00000223642.1:p.Arg1500Ile
ENST00000480188.1:n.32G>T
NM_001735.2:c.4499G>T , LRG_28t1:c.4499G>T	NP_001726.2:p.Arg1500Ile
XM_011518980.1:c.4514G>T	XP_011517282.1:p.Arg1505Ile
NM_001317163.1:c.4517G>T	NP_001304092.1:p.Arg1506Ile
NM_001317163.2:c.4517G>T	NP_001304092.1:p.Arg1506Ile
NM_001735.3:c.4499G>T MANE Select	NP_001726.2:p.Arg1500Ile