Canonical Allele Identifier: CA403615444

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6682205A>C (hg19) ; chr19:g.6682194A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682194A>C , CM000681.2:g.6682194A>C	GRCh38
NC_000019.9:g.6682205A>C , CM000681.1:g.6682205A>C	GRCh37
NC_000019.8:g.6633205A>C	NCBI36
NG_009557.1:g.43458T>G , LRG_27:g.43458T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2556T>G
ENST00000695653.1:c.2117T>G	ENSP00000512084.1:p.Leu706Trp
ENST00000695654.1:c.3233T>G	ENSP00000512085.1:p.Leu1078Trp
ENST00000695689.1:c.179T>G	ENSP00000512101.1:n.179T>G
ENST00000695690.1:n.399T>G
ENST00000695691.1:n.399T>G
ENST00000245907.11:c.4208T>G MANE Select	ENSP00000245907.4:p.Leu1403Trp
ENST00000245907.10:c.4208T>G	ENSP00000245907.4:p.Leu1403Trp
ENST00000596548.1:c.329T>G	ENSP00000469744.1:p.Leu110Trp
ENST00000599899.5:n.1167T>G
ENST00000601008.1:c.242-4236T>G	ENSP00000471384.1:n.242-4236T>G
NM_000064.3:c.4208T>G	NP_000055.2:p.Leu1403Trp
NM_000064.4:c.4208T>G MANE Select	NP_000055.2:p.Leu1403Trp