Canonical Allele Identifier: CA199363961
Gene: C5 HGNC NCBI

Linked Data

dbSNP Id: rs940368659
gnomAD v2: 9-123701984-T-C
gnomAD v3: 9-120939706-T-C
gnomAD v4: 9-120939706-T-C
MyVariant Identifiers: chr9:g.123701984T>C (hg19) chr9:g.120939706T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120939706T>C , CM000671.2:g.120939706T>C GRCh38
NC_000009.11:g.123701984T>C , CM000671.1:g.123701984T>C GRCh37
NC_000009.10:g.122741805T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696279.1:c.5899-5752A>G
ENST00000696280.1:n.5668-5752A>G
ENST00000696281.1:c.*548-5752A>G ENSP00000512521.1:n.*548-5752A>G
ENST00000697921.1:n.4457-5752A>G
ENST00000697922.1:c.*5569-5752A>G ENSP00000513478.1:n.*5569-5752A>G
Search 100 bp 5'
Search 100 bp 3'