Canonical Allele Identifier: CA2576591838
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6684930-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6684930C>A , CM000681.2:g.6684930C>A GRCh38
NC_000019.9:g.6684941C>A , CM000681.1:g.6684941C>A GRCh37
NC_000019.8:g.6635941C>A NCBI36
NG_009557.1:g.40722G>T , LRG_27:g.40722G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2317+58G>T
ENST00000695653.1:c.1878+58G>T ENSP00000512084.1:n.1878+58G>T
ENST00000695654.1:c.2994+58G>T ENSP00000512085.1:n.2994+58G>T
ENST00000695690.1:n.160+58G>T
ENST00000695691.1:n.160+58G>T
ENST00000245907.11:c.3969+58G>T MANE Select ENSP00000245907.4:n.3969+58G>T
ENST00000245907.10:c.3969+58G>T ENSP00000245907.4:n.3969+58G>T
ENST00000596238.1:n.412+58G>T
ENST00000596548.1:c.51+58G>T ENSP00000469744.1:n.51+58G>T
ENST00000601008.1:c.241+1816G>T ENSP00000471384.1:n.241+1816G>T
NM_000064.3:c.3969+58G>T NP_000055.2:n.3969+58G>T
NM_000064.4:c.3969+58G>T MANE Select NP_000055.2:n.3969+58G>T