Canonical Allele Identifier: CA374747624

Gene: C5

Linked Data

• gnomAD v4: 9-120962942-A-G
• MyVariant Identifiers: chr9:g.123725220A>G (hg19) ; chr9:g.120962942A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962942A>G , CM000671.2:g.120962942A>G	GRCh38
NC_000009.11:g.123725220A>G , CM000671.1:g.123725220A>G	GRCh37
NC_000009.10:g.122765041A>G	NCBI36
NG_007364.1:g.92335T>C , LRG_28:g.92335T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1383T>C
ENST00000696279.1:c.4669T>C
ENST00000696280.1:n.4438T>C
ENST00000696281.1:c.4367T>C	ENSP00000512521.1:p.Phe1456Ser
ENST00000697921.1:n.3227T>C
ENST00000697922.1:c.*4339T>C	ENSP00000513478.1:n.*4339T>C
ENST00000697923.1:n.4794T>C
ENST00000223642.3:c.4349T>C MANE Select	ENSP00000223642.1:p.Phe1450Ser
ENST00000223642.2:c.4349T>C	ENSP00000223642.1:p.Phe1450Ser
NM_001735.2:c.4349T>C , LRG_28t1:c.4349T>C	NP_001726.2:p.Phe1450Ser
XM_011518980.1:c.4364T>C	XP_011517282.1:p.Phe1455Ser
NM_001317163.1:c.4367T>C	NP_001304092.1:p.Phe1456Ser
NM_001317163.2:c.4367T>C	NP_001304092.1:p.Phe1456Ser
NM_001735.3:c.4349T>C MANE Select	NP_001726.2:p.Phe1450Ser