Canonical Allele Identifier: CA2320552864
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685004A= , CM000681.2:g.6685004A= GRCh38
NC_000019.9:g.6685015A= , CM000681.1:g.6685015A= GRCh37
NC_000019.8:g.6636015A= NCBI36
NG_009557.1:g.40648T= , LRG_27:g.40648T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2301T=
ENST00000695653.1:c.1862T= ENSP00000512084.1:p.Leu621=
ENST00000695654.1:c.2978T= ENSP00000512085.1:p.Leu993=
ENST00000695690.1:n.144T=
ENST00000695691.1:n.144T=
ENST00000245907.11:c.3953T= MANE Select ENSP00000245907.4:p.Leu1318=
ENST00000245907.10:c.3953T= ENSP00000245907.4:p.Leu1318=
ENST00000596238.1:n.396T=
ENST00000596548.1:c.35T= ENSP00000469744.1:p.Leu12=
ENST00000601008.1:c.241+1742T= ENSP00000471384.1:n.241+1742T=
NM_000064.3:c.3953T= NP_000055.2:p.Leu1318=
NM_000064.4:c.3953T= MANE Select NP_000055.2:p.Leu1318=