Canonical Allele Identifier: CA403643492
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1286082774
gnomAD v2: 19-6714414-T-A
gnomAD v4: 19-6714403-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714403T>A , CM000681.2:g.6714403T>A GRCh38
NC_000019.9:g.6714414T>A , CM000681.1:g.6714414T>A GRCh37
NC_000019.8:g.6665414T>A NCBI36
NG_009557.1:g.11249A>T , LRG_27:g.11249A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.425A>T ENSP00000512083.1:p.Gln142Leu
ENST00000245907.11:c.548A>T MANE Select ENSP00000245907.4:p.Gln183Leu
ENST00000245907.10:c.548A>T ENSP00000245907.4:p.Gln183Leu
NM_000064.3:c.548A>T NP_000055.2:p.Gln183Leu
NM_000064.4:c.548A>T MANE Select NP_000055.2:p.Gln183Leu