Canonical Allele Identifier: CA505123403
Gene: C3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.6685011C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685000C>A , CM000681.2:g.6685000C>A GRCh38
NC_000019.9:g.6685011C>A , CM000681.1:g.6685011C>A GRCh37
NC_000019.8:g.6636011C>A NCBI36
NG_009557.1:g.40652G>T , LRG_27:g.40652G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2305G>T
ENST00000695653.1:c.1866G>T ENSP00000512084.1:p.Leu622=
ENST00000695654.1:c.2982G>T ENSP00000512085.1:p.Leu994=
ENST00000695690.1:n.148G>T
ENST00000695691.1:n.148G>T
ENST00000245907.11:c.3957G>T MANE Select ENSP00000245907.4:p.Leu1319=
ENST00000245907.10:c.3957G>T ENSP00000245907.4:p.Leu1319=
ENST00000596238.1:n.400G>T
ENST00000596548.1:c.39G>T ENSP00000469744.1:p.Leu13=
ENST00000601008.1:c.241+1746G>T ENSP00000471384.1:n.241+1746G>T
NM_000064.3:c.3957G>T NP_000055.2:p.Leu1319=
NM_000064.4:c.3957G>T MANE Select NP_000055.2:p.Leu1319=