Canonical Allele Identifier: CA403615382
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6682177-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682177T>A , CM000681.2:g.6682177T>A GRCh38
NC_000019.9:g.6682188T>A , CM000681.1:g.6682188T>A GRCh37
NC_000019.8:g.6633188T>A NCBI36
NG_009557.1:g.43475A>T , LRG_27:g.43475A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2573A>T
ENST00000695653.1:c.2134A>T ENSP00000512084.1:p.Thr712Ser
ENST00000695654.1:c.3250A>T ENSP00000512085.1:p.Thr1084Ser
ENST00000695689.1:c.196A>T ENSP00000512101.1:n.196A>T
ENST00000695690.1:n.416A>T
ENST00000695691.1:n.416A>T
ENST00000245907.11:c.4225A>T MANE Select ENSP00000245907.4:p.Thr1409Ser
ENST00000245907.10:c.4225A>T ENSP00000245907.4:p.Thr1409Ser
ENST00000596548.1:c.346A>T ENSP00000469744.1:p.Thr116Ser
ENST00000599899.5:n.1184A>T
ENST00000601008.1:c.242-4219A>T ENSP00000471384.1:n.242-4219A>T
NM_000064.3:c.4225A>T NP_000055.2:p.Thr1409Ser
NM_000064.4:c.4225A>T MANE Select NP_000055.2:p.Thr1409Ser