Canonical Allele Identifier: CA374746590

Gene: C5

Linked Data

• dbSNP Id: rs1239234492
• gnomAD v3: 9-120962738-T-C
• gnomAD v4: 9-120962738-T-C
• MyVariant Identifiers: chr9:g.123725016T>C (hg19) ; chr9:g.120962738T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962738T>C , CM000671.2:g.120962738T>C	GRCh38
NC_000009.11:g.123725016T>C , CM000671.1:g.123725016T>C	GRCh37
NC_000009.10:g.122764837T>C	NCBI36
NG_007364.1:g.92539A>G , LRG_28:g.92539A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1471A>G
ENST00000696279.1:c.4757A>G
ENST00000696280.1:n.4526A>G
ENST00000696281.1:c.4455A>G	ENSP00000512521.1:p.Ile1485Met
ENST00000697921.1:n.3315A>G
ENST00000697922.1:c.*4427A>G	ENSP00000513478.1:n.*4427A>G
ENST00000697923.1:n.4882A>G
ENST00000223642.3:c.4437A>G MANE Select	ENSP00000223642.1:p.Ile1479Met
ENST00000223642.2:c.4437A>G	ENSP00000223642.1:p.Ile1479Met
NM_001735.2:c.4437A>G , LRG_28t1:c.4437A>G	NP_001726.2:p.Ile1479Met
XM_011518980.1:c.4452A>G	XP_011517282.1:p.Ile1484Met
NM_001317163.1:c.4455A>G	NP_001304092.1:p.Ile1485Met
NM_001317163.2:c.4455A>G	NP_001304092.1:p.Ile1485Met
NM_001735.3:c.4437A>G MANE Select	NP_001726.2:p.Ile1479Met