Canonical Allele Identifier: CA2587875433
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6697842-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697842C>A , CM000681.2:g.6697842C>A GRCh38
NC_000019.9:g.6697853C>A , CM000681.1:g.6697853C>A GRCh37
NC_000019.8:g.6648853C>A NCBI36
NG_009557.1:g.27810G>T , LRG_27:g.27810G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.789-48G>T
ENST00000695652.1:c.2318-48G>T ENSP00000512083.1:n.2318-48G>T
ENST00000695653.1:c.350-48G>T ENSP00000512084.1:n.350-48G>T
ENST00000695654.1:c.1565-48G>T ENSP00000512085.1:n.1565-48G>T
ENST00000695655.1:c.1382-48G>T ENSP00000512086.1:n.1382-48G>T
ENST00000695692.1:n.1805-48G>T
ENST00000245907.11:c.2441-48G>T MANE Select ENSP00000245907.4:n.2441-48G>T
ENST00000245907.10:c.2441-48G>T ENSP00000245907.4:n.2441-48G>T
ENST00000602053.1:n.489-48G>T
NM_000064.3:c.2441-48G>T NP_000055.2:n.2441-48G>T
NM_000064.4:c.2441-48G>T MANE Select NP_000055.2:n.2441-48G>T