Canonical Allele Identifier: CA374746225

Gene: C5

Linked Data

• dbSNP Id: rs771390003
• gnomAD v2: 9-123724979-T-G
• gnomAD v4: 9-120962701-T-G
• MyVariant Identifiers: chr9:g.123724979T>G (hg19) ; chr9:g.120962701T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962701T>G , CM000671.2:g.120962701T>G	GRCh38
NC_000009.11:g.123724979T>G , CM000671.1:g.123724979T>G	GRCh37
NC_000009.10:g.122764800T>G	NCBI36
NG_007364.1:g.92576A>C , LRG_28:g.92576A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1508A>C
ENST00000696279.1:c.4794A>C
ENST00000696280.1:n.4563A>C
ENST00000696281.1:c.4492A>C	ENSP00000512521.1:p.Thr1498Pro
ENST00000697921.1:n.3352A>C
ENST00000697922.1:c.*4464A>C	ENSP00000513478.1:n.*4464A>C
ENST00000697923.1:n.4919A>C
ENST00000223642.3:c.4474A>C MANE Select	ENSP00000223642.1:p.Thr1492Pro
ENST00000223642.2:c.4474A>C	ENSP00000223642.1:p.Thr1492Pro
ENST00000480188.1:n.7A>C
NM_001735.2:c.4474A>C , LRG_28t1:c.4474A>C	NP_001726.2:p.Thr1492Pro
XM_011518980.1:c.4489A>C	XP_011517282.1:p.Thr1497Pro
NM_001317163.1:c.4492A>C	NP_001304092.1:p.Thr1498Pro
NM_001317163.2:c.4492A>C	NP_001304092.1:p.Thr1498Pro
NM_001735.3:c.4474A>C MANE Select	NP_001726.2:p.Thr1492Pro