Canonical Allele Identifier: CA505193015

Gene: C3

Linked Data

• dbSNP Id: rs1191707778
• gnomAD v2: 19-6713246-C-G
• gnomAD v4: 19-6713235-C-G
• MyVariant Identifiers: chr19:g.6713246C>G (hg19) ; chr19:g.6713235C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713235C>G , CM000681.2:g.6713235C>G	GRCh38
NC_000019.9:g.6713246C>G , CM000681.1:g.6713246C>G	GRCh37
NC_000019.8:g.6664246C>G	NCBI36
NG_009557.1:g.12417G>C , LRG_27:g.12417G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.834G>C	ENSP00000512083.1:p.Leu278=
ENST00000695654.1:c.81G>C	ENSP00000512085.1:p.Leu27=
ENST00000695692.1:n.281G>C
ENST00000245907.11:c.957G>C MANE Select	ENSP00000245907.4:p.Leu319=
ENST00000245907.10:c.957G>C	ENSP00000245907.4:p.Leu319=
ENST00000594270.5:n.81G>C
ENST00000595577.1:n.461G>C
ENST00000597442.5:n.207G>C
NM_000064.3:c.957G>C	NP_000055.2:p.Leu319=
NM_000064.4:c.957G>C MANE Select	NP_000055.2:p.Leu319=