Canonical Allele Identifier: CA199379966

Gene: C5

Linked Data

• dbSNP Id: rs560682834
• gnomAD v2: 9-123716755-T-C
• gnomAD v3: 9-120954477-T-C
• gnomAD v4: 9-120954477-T-C
• MyVariant Identifiers: chr9:g.123716755T>C (hg19) ; chr9:g.120954477T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120954477T>C , CM000671.2:g.120954477T>C	GRCh38
NC_000009.11:g.123716755T>C , CM000671.1:g.123716755T>C	GRCh37
NC_000009.10:g.122756576T>C	NCBI36
NG_007364.1:g.100800A>G , LRG_28:g.100800A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000480188.2:n.4604A>G
ENST00000696279.1:c.5083-609A>G
ENST00000696280.1:n.4852-609A>G
ENST00000696281.1:c.4781-609A>G	ENSP00000512521.1:n.4781-609A>G
ENST00000697921.1:n.3641-609A>G
ENST00000697922.1:c.*4753-609A>G	ENSP00000513478.1:n.*4753-609A>G
ENST00000697923.1:n.8015A>G
ENST00000223642.3:c.4763-609A>G MANE Select	ENSP00000223642.1:n.4763-609A>G
ENST00000223642.2:c.4763-609A>G	ENSP00000223642.1:n.4763-609A>G
NM_001735.2:c.4763-609A>G , LRG_28t1:c.4763-609A>G	NP_001726.2:n.4763-609A>G
XM_011518980.1:c.4778-609A>G	XP_011517282.1:n.4778-609A>G
NM_001317163.1:c.4781-609A>G	NP_001304092.1:n.4781-609A>G
NM_001317163.2:c.4781-609A>G	NP_001304092.1:n.4781-609A>G
NM_001735.3:c.4763-609A>G MANE Select	NP_001726.2:n.4763-609A>G