Canonical Allele Identifier: CA403643027
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714059C>A , CM000681.2:g.6714059C>A GRCh38
NC_000019.9:g.6714070C>A , CM000681.1:g.6714070C>A GRCh37
NC_000019.8:g.6665070C>A NCBI36
NG_009557.1:g.11593G>T , LRG_27:g.11593G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.583G>T ENSP00000512083.1:p.Val195Leu
ENST00000245907.11:c.706G>T MANE Select ENSP00000245907.4:p.Val236Leu
ENST00000245907.10:c.706G>T ENSP00000245907.4:p.Val236Leu
ENST00000595577.1:n.210G>T
NM_000064.3:c.706G>T NP_000055.2:p.Val236Leu
NM_000064.4:c.706G>T MANE Select NP_000055.2:p.Val236Leu