Canonical Allele Identifier: CA859587299
Gene: C5 HGNC NCBI

Linked Data

dbSNP Id: rs1322895502
gnomAD v3: 9-120938345-G-T
gnomAD v4: 9-120938345-G-T
MyVariant Identifiers: chr9:g.123700623G>T (hg19) chr9:g.120938345G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120938345G>T , CM000671.2:g.120938345G>T GRCh38
NC_000009.11:g.123700623G>T , CM000671.1:g.123700623G>T GRCh37
NC_000009.10:g.122740444G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696279.1:c.5899-4391C>A
ENST00000696280.1:n.5668-4391C>A
ENST00000696281.1:c.*548-4391C>A ENSP00000512521.1:n.*548-4391C>A
ENST00000697921.1:n.4457-4391C>A
ENST00000697922.1:c.*5569-4391C>A ENSP00000513478.1:n.*5569-4391C>A
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