Canonical Allele Identifier: CA466940777

Gene: C5

Linked Data

• gnomAD v4: 9-120962693-T-G
• MyVariant Identifiers: chr9:g.123724971T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962693T>G , CM000671.2:g.120962693T>G	GRCh38
NC_000009.11:g.123724971T>G , CM000671.1:g.123724971T>G	GRCh37
NC_000009.10:g.122764792T>G	NCBI36
NG_007364.1:g.92584A>C , LRG_28:g.92584A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1516A>C
ENST00000696279.1:c.4802A>C
ENST00000696280.1:n.4571A>C
ENST00000696281.1:c.4500A>C	ENSP00000512521.1:p.Thr1500=
ENST00000697921.1:n.3360A>C
ENST00000697922.1:c.*4472A>C	ENSP00000513478.1:n.*4472A>C
ENST00000697923.1:n.4927A>C
ENST00000223642.3:c.4482A>C MANE Select	ENSP00000223642.1:p.Thr1494=
ENST00000223642.2:c.4482A>C	ENSP00000223642.1:p.Thr1494=
ENST00000480188.1:n.15A>C
NM_001735.2:c.4482A>C , LRG_28t1:c.4482A>C	NP_001726.2:p.Thr1494=
XM_011518980.1:c.4497A>C	XP_011517282.1:p.Thr1499=
NM_001317163.1:c.4500A>C	NP_001304092.1:p.Thr1500=
NM_001317163.2:c.4500A>C	NP_001304092.1:p.Thr1500=
NM_001735.3:c.4482A>C MANE Select	NP_001726.2:p.Thr1494=