Canonical Allele Identifier: CA884128314
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1459830036
gnomAD v3: 19-6679272-G-A
gnomAD v4: 19-6679272-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679272G>A , CM000681.2:g.6679272G>A GRCh38
NC_000019.9:g.6679283G>A , CM000681.1:g.6679283G>A GRCh37
NC_000019.8:g.6630283G>A NCBI36
NG_009557.1:g.46380C>T , LRG_27:g.46380C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2895-64C>T
ENST00000695653.1:c.2456-64C>T ENSP00000512084.1:n.2456-64C>T
ENST00000695654.1:c.3572-64C>T ENSP00000512085.1:n.3572-64C>T
ENST00000695689.1:c.518-64C>T ENSP00000512101.1:n.518-64C>T
ENST00000695690.1:n.1612-64C>T
ENST00000695691.1:n.1408-64C>T
ENST00000245907.11:c.4547-64C>T MANE Select ENSP00000245907.4:n.4547-64C>T
ENST00000245907.10:c.4547-64C>T ENSP00000245907.4:n.4547-64C>T
ENST00000599668.1:n.167-64C>T
ENST00000599899.5:n.1506-64C>T
ENST00000601008.1:c.242-1314C>T ENSP00000471384.1:n.242-1314C>T
NM_000064.3:c.4547-64C>T NP_000055.2:n.4547-64C>T
NM_000064.4:c.4547-64C>T MANE Select NP_000055.2:n.4547-64C>T