Canonical Allele Identifier: CA993064487
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs751920993
gnomAD v3: 19-6682133-C-A
gnomAD v4: 19-6682133-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682133C>A , CM000681.2:g.6682133C>A GRCh38
NC_000019.9:g.6682144C>A , CM000681.1:g.6682144C>A GRCh37
NC_000019.8:g.6633144C>A NCBI36
NG_009557.1:g.43519G>T , LRG_27:g.43519G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2608+9G>T
ENST00000695653.1:c.2169+9G>T ENSP00000512084.1:n.2169+9G>T
ENST00000695654.1:c.3285+9G>T ENSP00000512085.1:n.3285+9G>T
ENST00000695689.1:c.231+9G>T ENSP00000512101.1:n.231+9G>T
ENST00000695690.1:n.451+9G>T
ENST00000695691.1:n.451+9G>T
ENST00000245907.11:c.4260+9G>T MANE Select ENSP00000245907.4:n.4260+9G>T
ENST00000245907.10:c.4260+9G>T ENSP00000245907.4:n.4260+9G>T
ENST00000596548.1:c.381+9G>T ENSP00000469744.1:n.381+9G>T
ENST00000599899.5:n.1219+9G>T
ENST00000601008.1:c.242-4175G>T ENSP00000471384.1:n.242-4175G>T
NM_000064.3:c.4260+9G>T NP_000055.2:n.4260+9G>T
NM_000064.4:c.4260+9G>T MANE Select NP_000055.2:n.4260+9G>T