Canonical Allele Identifier: CA374745967

Gene: C5

Linked Data

• gnomAD v4: 9-120962674-G-T
• MyVariant Identifiers: chr9:g.123724952G>T (hg19) ; chr9:g.120962674G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962674G>T , CM000671.2:g.120962674G>T	GRCh38
NC_000009.11:g.123724952G>T , CM000671.1:g.123724952G>T	GRCh37
NC_000009.10:g.122764773G>T	NCBI36
NG_007364.1:g.92603C>A , LRG_28:g.92603C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1535C>A
ENST00000696279.1:c.4821C>A
ENST00000696280.1:n.4590C>A
ENST00000696281.1:c.4519C>A	ENSP00000512521.1:p.Pro1507Thr
ENST00000697921.1:n.3379C>A
ENST00000697922.1:c.*4491C>A	ENSP00000513478.1:n.*4491C>A
ENST00000697923.1:n.4946C>A
ENST00000223642.3:c.4501C>A MANE Select	ENSP00000223642.1:p.Pro1501Thr
ENST00000223642.2:c.4501C>A	ENSP00000223642.1:p.Pro1501Thr
ENST00000480188.1:n.34C>A
NM_001735.2:c.4501C>A , LRG_28t1:c.4501C>A	NP_001726.2:p.Pro1501Thr
XM_011518980.1:c.4516C>A	XP_011517282.1:p.Pro1506Thr
NM_001317163.1:c.4519C>A	NP_001304092.1:p.Pro1507Thr
NM_001317163.2:c.4519C>A	NP_001304092.1:p.Pro1507Thr
NM_001735.3:c.4501C>A MANE Select	NP_001726.2:p.Pro1501Thr