Canonical Allele Identifier: CA403615528
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682214C>A , CM000681.2:g.6682214C>A GRCh38
NC_000019.9:g.6682225C>A , CM000681.1:g.6682225C>A GRCh37
NC_000019.8:g.6633225C>A NCBI36
NG_009557.1:g.43438G>T , LRG_27:g.43438G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2536G>T
ENST00000695653.1:c.2097G>T ENSP00000512084.1:p.Gln699His
ENST00000695654.1:c.3213G>T ENSP00000512085.1:p.Gln1071His
ENST00000695689.1:c.159G>T ENSP00000512101.1:n.159G>T
ENST00000695690.1:n.379G>T
ENST00000695691.1:n.379G>T
ENST00000245907.11:c.4188G>T MANE Select ENSP00000245907.4:p.Gln1396His
ENST00000245907.10:c.4188G>T ENSP00000245907.4:p.Gln1396His
ENST00000596548.1:c.309G>T ENSP00000469744.1:p.Gln103His
ENST00000599899.5:n.1147G>T
ENST00000601008.1:c.242-4256G>T ENSP00000471384.1:n.242-4256G>T
NM_000064.3:c.4188G>T NP_000055.2:p.Gln1396His
NM_000064.4:c.4188G>T MANE Select NP_000055.2:p.Gln1396His