Canonical Allele Identifier: CA505123695
Gene: C3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.6686222C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686211C>A , CM000681.2:g.6686211C>A GRCh38
NC_000019.9:g.6686222C>A , CM000681.1:g.6686222C>A GRCh37
NC_000019.8:g.6637222C>A NCBI36
NG_009557.1:g.39441G>T , LRG_27:g.39441G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2071G>T
ENST00000695652.1:c.3600G>T ENSP00000512083.1:p.Leu1200=
ENST00000695653.1:c.1632G>T ENSP00000512084.1:p.Leu544=
ENST00000695654.1:c.2748G>T ENSP00000512085.1:p.Leu916=
ENST00000695655.1:c.2664G>T ENSP00000512086.1:n.2664G>T
ENST00000695692.1:n.3087G>T
ENST00000245907.11:c.3723G>T MANE Select ENSP00000245907.4:p.Leu1241=
ENST00000245907.10:c.3723G>T ENSP00000245907.4:p.Leu1241=
ENST00000596238.1:n.166G>T
ENST00000601008.1:c.241+535G>T ENSP00000471384.1:n.241+535G>T
NM_000064.3:c.3723G>T NP_000055.2:p.Leu1241=
NM_000064.4:c.3723G>T MANE Select NP_000055.2:p.Leu1241=