Canonical Allele Identifier: CA505125179
Gene: C3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.6718340C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6718329C>A , CM000681.2:g.6718329C>A GRCh38
NC_000019.9:g.6718340C>A , CM000681.1:g.6718340C>A GRCh37
NC_000019.8:g.6669340C>A NCBI36
NG_009557.1:g.7323G>T , LRG_27:g.7323G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000594936.2:n.412G>T
ENST00000695652.1:c.228G>T ENSP00000512083.1:p.Val76=
ENST00000695693.1:c.351G>T ENSP00000512104.1:p.Val117=
ENST00000245907.11:c.351G>T MANE Select ENSP00000245907.4:p.Val117=
ENST00000245907.10:c.351G>T ENSP00000245907.4:p.Val117=
ENST00000594936.1:n.412G>T
ENST00000600744.1:c.228G>T ENSP00000472044.1:p.Val76=
NM_000064.3:c.351G>T NP_000055.2:p.Val117=
NM_000064.4:c.351G>T MANE Select NP_000055.2:p.Val117=