Canonical Allele Identifier: CA374746798

Gene: C5

Linked Data

• dbSNP Id: rs1389317305
• gnomAD v2: 9-123725039-A-G
• gnomAD v4: 9-120962761-A-G
• MyVariant Identifiers: chr9:g.123725039A>G (hg19) ; chr9:g.120962761A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962761A>G , CM000671.2:g.120962761A>G	GRCh38
NC_000009.11:g.123725039A>G , CM000671.1:g.123725039A>G	GRCh37
NC_000009.10:g.122764860A>G	NCBI36
NG_007364.1:g.92516T>C , LRG_28:g.92516T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000480188.2:n.1448T>C
ENST00000696279.1:c.4734T>C
ENST00000696280.1:n.4503T>C
ENST00000696281.1:c.4432T>C	ENSP00000512521.1:p.Phe1478Leu
ENST00000697921.1:n.3292T>C
ENST00000697922.1:c.*4404T>C	ENSP00000513478.1:n.*4404T>C
ENST00000697923.1:n.4859T>C
ENST00000223642.3:c.4414T>C MANE Select	ENSP00000223642.1:p.Phe1472Leu
ENST00000223642.2:c.4414T>C	ENSP00000223642.1:p.Phe1472Leu
NM_001735.2:c.4414T>C , LRG_28t1:c.4414T>C	NP_001726.2:p.Phe1472Leu
XM_011518980.1:c.4429T>C	XP_011517282.1:p.Phe1477Leu
NM_001317163.1:c.4432T>C	NP_001304092.1:p.Phe1478Leu
NM_001317163.2:c.4432T>C	NP_001304092.1:p.Phe1478Leu
NM_001735.3:c.4414T>C MANE Select	NP_001726.2:p.Phe1472Leu