Canonical Allele Identifier: CA2587875410
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6697806-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697806G>A , CM000681.2:g.6697806G>A GRCh38
NC_000019.9:g.6697817G>A , CM000681.1:g.6697817G>A GRCh37
NC_000019.8:g.6648817G>A NCBI36
NG_009557.1:g.27846C>T , LRG_27:g.27846C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.789-12C>T
ENST00000695652.1:c.2318-12C>T ENSP00000512083.1:n.2318-12C>T
ENST00000695653.1:c.350-12C>T ENSP00000512084.1:n.350-12C>T
ENST00000695654.1:c.1565-12C>T ENSP00000512085.1:n.1565-12C>T
ENST00000695655.1:c.1382-12C>T ENSP00000512086.1:n.1382-12C>T
ENST00000695692.1:n.1805-12C>T
ENST00000245907.11:c.2441-12C>T MANE Select ENSP00000245907.4:n.2441-12C>T
ENST00000245907.10:c.2441-12C>T ENSP00000245907.4:n.2441-12C>T
ENST00000602053.1:n.489-12C>T
NM_000064.3:c.2441-12C>T NP_000055.2:n.2441-12C>T
NM_000064.4:c.2441-12C>T MANE Select NP_000055.2:n.2441-12C>T