Canonical Allele Identifier: CA505123570
Gene: C3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.6685133A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685122A>G , CM000681.2:g.6685122A>G GRCh38
NC_000019.9:g.6685133A>G , CM000681.1:g.6685133A>G GRCh37
NC_000019.8:g.6636133A>G NCBI36
NG_009557.1:g.40530T>C , LRG_27:g.40530T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.2183T>C
ENST00000695653.1:c.1744T>C ENSP00000512084.1:p.Leu582=
ENST00000695654.1:c.2860T>C ENSP00000512085.1:p.Leu954=
ENST00000695690.1:n.26T>C
ENST00000695691.1:n.26T>C
ENST00000245907.11:c.3835T>C MANE Select ENSP00000245907.4:p.Leu1279=
ENST00000245907.10:c.3835T>C ENSP00000245907.4:p.Leu1279=
ENST00000596238.1:n.278T>C
ENST00000601008.1:c.241+1624T>C ENSP00000471384.1:n.241+1624T>C
NM_000064.3:c.3835T>C NP_000055.2:p.Leu1279=
NM_000064.4:c.3835T>C MANE Select NP_000055.2:p.Leu1279=