Canonical Allele Identifier: CA403612029

Gene: C3

Linked Data

• gnomAD v4: 19-6679144-A-C
• MyVariant Identifiers: chr19:g.6679155A>C (hg19) ; chr19:g.6679144A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679144A>C , CM000681.2:g.6679144A>C	GRCh38
NC_000019.9:g.6679155A>C , CM000681.1:g.6679155A>C	GRCh37
NC_000019.8:g.6630155A>C	NCBI36
NG_009557.1:g.46508T>G , LRG_27:g.46508T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2959T>G
ENST00000695653.1:c.2520T>G	ENSP00000512084.1:p.Cys840Trp
ENST00000695654.1:c.3636T>G	ENSP00000512085.1:p.Cys1212Trp
ENST00000695689.1:c.582T>G	ENSP00000512101.1:n.582T>G
ENST00000695690.1:n.1676T>G
ENST00000695691.1:n.1472T>G
ENST00000245907.11:c.4611T>G MANE Select	ENSP00000245907.4:p.Cys1537Trp
ENST00000245907.10:c.4611T>G	ENSP00000245907.4:p.Cys1537Trp
ENST00000599668.1:n.231T>G
ENST00000599899.5:n.1570T>G
ENST00000601008.1:c.242-1186T>G	ENSP00000471384.1:n.242-1186T>G
ENST00000602229.1:c.58T>G
NM_000064.3:c.4611T>G	NP_000055.2:p.Cys1537Trp
NM_000064.4:c.4611T>G MANE Select	NP_000055.2:p.Cys1537Trp