Canonical Allele Identifier: CA9129357
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs760920399
gnomAD v2: 19-6709860-G-A
gnomAD v4: 19-6709849-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709849G>A , CM000681.2:g.6709849G>A GRCh38
NC_000019.9:g.6709860G>A , CM000681.1:g.6709860G>A GRCh37
NC_000019.8:g.6660860G>A NCBI36
NG_009557.1:g.15803C>T , LRG_27:g.15803C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1564-7C>T ENSP00000512083.1:n.1564-7C>T
ENST00000695654.1:c.811-7C>T ENSP00000512085.1:n.811-7C>T
ENST00000695655.1:c.621C>T ENSP00000512086.1:n.621C>T
ENST00000695692.1:n.1051-7C>T
ENST00000245907.11:c.1687-7C>T MANE Select ENSP00000245907.4:n.1687-7C>T
ENST00000245907.10:c.1687-7C>T ENSP00000245907.4:n.1687-7C>T
ENST00000600763.1:n.320-7C>T
NM_000064.3:c.1687-7C>T NP_000055.2:n.1687-7C>T
NM_000064.4:c.1687-7C>T MANE Select NP_000055.2:n.1687-7C>T