Canonical Allele Identifier: CA403614702
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6681975G>A , CM000681.2:g.6681975G>A GRCh38
NC_000019.9:g.6681986G>A , CM000681.1:g.6681986G>A GRCh37
NC_000019.8:g.6632986G>A NCBI36
NG_009557.1:g.43677C>T , LRG_27:g.43677C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2664C>T
ENST00000695653.1:c.2225C>T ENSP00000512084.1:p.Ser742Phe
ENST00000695654.1:c.3341C>T ENSP00000512085.1:p.Ser1114Phe
ENST00000695689.1:c.287C>T ENSP00000512101.1:n.287C>T
ENST00000695690.1:n.507C>T
ENST00000695691.1:n.507C>T
ENST00000245907.11:c.4316C>T MANE Select ENSP00000245907.4:p.Ser1439Phe
ENST00000245907.10:c.4316C>T ENSP00000245907.4:p.Ser1439Phe
ENST00000596548.1:c.437C>T ENSP00000469744.1:p.Ser146Phe
ENST00000599899.5:n.1275C>T
ENST00000601008.1:c.242-4017C>T ENSP00000471384.1:n.242-4017C>T
NM_000064.3:c.4316C>T NP_000055.2:p.Ser1439Phe
NM_000064.4:c.4316C>T MANE Select NP_000055.2:p.Ser1439Phe