Canonical Allele Identifier: CA505123408
Gene: C3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.6685014G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685003G>C , CM000681.2:g.6685003G>C GRCh38
NC_000019.9:g.6685014G>C , CM000681.1:g.6685014G>C GRCh37
NC_000019.8:g.6636014G>C NCBI36
NG_009557.1:g.40649C>G , LRG_27:g.40649C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2302C>G
ENST00000695653.1:c.1863C>G ENSP00000512084.1:p.Leu621=
ENST00000695654.1:c.2979C>G ENSP00000512085.1:p.Leu993=
ENST00000695690.1:n.145C>G
ENST00000695691.1:n.145C>G
ENST00000245907.11:c.3954C>G MANE Select ENSP00000245907.4:p.Leu1318=
ENST00000245907.10:c.3954C>G ENSP00000245907.4:p.Leu1318=
ENST00000596238.1:n.397C>G
ENST00000596548.1:c.36C>G ENSP00000469744.1:p.Leu12=
ENST00000601008.1:c.241+1743C>G ENSP00000471384.1:n.241+1743C>G
NM_000064.3:c.3954C>G NP_000055.2:p.Leu1318=
NM_000064.4:c.3954C>G MANE Select NP_000055.2:p.Leu1318=