Canonical Allele Identifier: CA505123709
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1918005022
gnomAD v4: 19-6686226-G-A
MyVariant Identifiers: chr19:g.6686237G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686226G>A , CM000681.2:g.6686226G>A GRCh38
NC_000019.9:g.6686237G>A , CM000681.1:g.6686237G>A GRCh37
NC_000019.8:g.6637237G>A NCBI36
NG_009557.1:g.39426C>T , LRG_27:g.39426C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2056C>T
ENST00000695652.1:c.3585C>T ENSP00000512083.1:p.Ala1195=
ENST00000695653.1:c.1617C>T ENSP00000512084.1:p.Ala539=
ENST00000695654.1:c.2733C>T ENSP00000512085.1:p.Ala911=
ENST00000695655.1:c.2649C>T ENSP00000512086.1:n.2649C>T
ENST00000695692.1:n.3072C>T
ENST00000245907.11:c.3708C>T MANE Select ENSP00000245907.4:p.Ala1236=
ENST00000245907.10:c.3708C>T ENSP00000245907.4:p.Ala1236=
ENST00000596238.1:n.151C>T
ENST00000601008.1:c.241+520C>T ENSP00000471384.1:n.241+520C>T
NM_000064.3:c.3708C>T NP_000055.2:p.Ala1236=
NM_000064.4:c.3708C>T MANE Select NP_000055.2:p.Ala1236=