Canonical Allele Identifier: CA374746163

Gene: C5

Linked Data

• gnomAD v4: 9-120962692-C-G
• MyVariant Identifiers: chr9:g.123724970C>G (hg19) ; chr9:g.120962692C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962692C>G , CM000671.2:g.120962692C>G	GRCh38
NC_000009.11:g.123724970C>G , CM000671.1:g.123724970C>G	GRCh37
NC_000009.10:g.122764791C>G	NCBI36
NG_007364.1:g.92585G>C , LRG_28:g.92585G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1517G>C
ENST00000696279.1:c.4803G>C
ENST00000696280.1:n.4572G>C
ENST00000696281.1:c.4501G>C	ENSP00000512521.1:p.Val1501Leu
ENST00000697921.1:n.3361G>C
ENST00000697922.1:c.*4473G>C	ENSP00000513478.1:n.*4473G>C
ENST00000697923.1:n.4928G>C
ENST00000223642.3:c.4483G>C MANE Select	ENSP00000223642.1:p.Val1495Leu
ENST00000223642.2:c.4483G>C	ENSP00000223642.1:p.Val1495Leu
ENST00000480188.1:n.16G>C
NM_001735.2:c.4483G>C , LRG_28t1:c.4483G>C	NP_001726.2:p.Val1495Leu
XM_011518980.1:c.4498G>C	XP_011517282.1:p.Val1500Leu
NM_001317163.1:c.4501G>C	NP_001304092.1:p.Val1501Leu
NM_001317163.2:c.4501G>C	NP_001304092.1:p.Val1501Leu
NM_001735.3:c.4483G>C MANE Select	NP_001726.2:p.Val1495Leu