Canonical Allele Identifier: CA9128380
Gene: C3 HGNC NCBI
COSMIC:
COSM4415314 (not active)
MyVariant.info:
GRCh38 chr19:g.6679500C>T
GRCh37 chr19:g.6679511C>T
gnomAD v2:
19:6679511 C / T
gnomAD v3:
19:6679500 C / T
gnomAD v4:
chr19-6679500-C-T
Joint Max Group AF 0.59054073 (SAS)
Genomes Max Group AF 0.57253594 (SAS)
Exomes Max Group AF 0.5906532 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679500C>T , CM000681.2:g.6679500C>T GRCh38
NC_000019.9:g.6679511C>T , CM000681.1:g.6679511C>T GRCh37
NC_000019.8:g.6630511C>T NCBI36
NG_009557.1:g.46152G>A , LRG_27:g.46152G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2805-4G>A
ENST00000695653.1:c.2366-4G>A ENSP00000512084.1:n.2366-4G>A
ENST00000695654.1:c.3482-4G>A ENSP00000512085.1:n.3482-4G>A
ENST00000695689.1:c.428-4G>A ENSP00000512101.1:n.428-4G>A
ENST00000695690.1:n.1522-4G>A
ENST00000695691.1:n.1318-4G>A
ENST00000245907.11:c.4457-4G>A MANE Select ENSP00000245907.4:n.4457-4G>A
ENST00000245907.10:c.4457-4G>A ENSP00000245907.4:n.4457-4G>A
ENST00000599668.1:n.52-4G>A
ENST00000599899.5:n.1416-4G>A
ENST00000601008.1:c.242-1542G>A ENSP00000471384.1:n.242-1542G>A
NM_000064.3:c.4457-4G>A NP_000055.2:n.4457-4G>A
NM_000064.4:c.4457-4G>A MANE Select NP_000055.2:n.4457-4G>A
Search 100 bp 5'
Search 100 bp 3'