Canonical Allele Identifier: CA403618458

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6685094G>C (hg19) ; chr19:g.6685083G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685083G>C , CM000681.2:g.6685083G>C	GRCh38
NC_000019.9:g.6685094G>C , CM000681.1:g.6685094G>C	GRCh37
NC_000019.8:g.6636094G>C	NCBI36
NG_009557.1:g.40569C>G , LRG_27:g.40569C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2222C>G
ENST00000695653.1:c.1783C>G	ENSP00000512084.1:p.Leu595Val
ENST00000695654.1:c.2899C>G	ENSP00000512085.1:p.Leu967Val
ENST00000695690.1:n.65C>G
ENST00000695691.1:n.65C>G
ENST00000245907.11:c.3874C>G MANE Select	ENSP00000245907.4:p.Leu1292Val
ENST00000245907.10:c.3874C>G	ENSP00000245907.4:p.Leu1292Val
ENST00000596238.1:n.317C>G
ENST00000601008.1:c.241+1663C>G	ENSP00000471384.1:n.241+1663C>G
NM_000064.3:c.3874C>G	NP_000055.2:p.Leu1292Val
NM_000064.4:c.3874C>G MANE Select	NP_000055.2:p.Leu1292Val