Canonical Allele Identifier: CA374746523

Gene: C5

Linked Data

• dbSNP Id: rs1280739006
• gnomAD v4: 9-120962730-A-G
• MyVariant Identifiers: chr9:g.123725008A>G (hg19) ; chr9:g.120962730A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962730A>G , CM000671.2:g.120962730A>G	GRCh38
NC_000009.11:g.123725008A>G , CM000671.1:g.123725008A>G	GRCh37
NC_000009.10:g.122764829A>G	NCBI36
NG_007364.1:g.92547T>C , LRG_28:g.92547T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1479T>C
ENST00000696279.1:c.4765T>C
ENST00000696280.1:n.4534T>C
ENST00000696281.1:c.4463T>C	ENSP00000512521.1:p.Leu1488Pro
ENST00000697921.1:n.3323T>C
ENST00000697922.1:c.*4435T>C	ENSP00000513478.1:n.*4435T>C
ENST00000697923.1:n.4890T>C
ENST00000223642.3:c.4445T>C MANE Select	ENSP00000223642.1:p.Leu1482Pro
ENST00000223642.2:c.4445T>C	ENSP00000223642.1:p.Leu1482Pro
NM_001735.2:c.4445T>C , LRG_28t1:c.4445T>C	NP_001726.2:p.Leu1482Pro
XM_011518980.1:c.4460T>C	XP_011517282.1:p.Leu1487Pro
NM_001317163.1:c.4463T>C	NP_001304092.1:p.Leu1488Pro
NM_001317163.2:c.4463T>C	NP_001304092.1:p.Leu1488Pro
NM_001735.3:c.4445T>C MANE Select	NP_001726.2:p.Leu1482Pro