Canonical Allele Identifier: CA9128406
Community Standard Title: NM_000064.4(C3):c.4369G>C (p.Asp1457His)
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6680245C>G , CM000681.2:g.6680245C>G GRCh38
NC_000019.9:g.6680256C>G , CM000681.1:g.6680256C>G GRCh37
NC_000019.8:g.6631256C>G NCBI36
NG_009557.1:g.45407G>C , LRG_27:g.45407G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000064.4:c.4369G>C MANE Select NP_000055.2:p.Asp1457His
ENST00000245907.11:c.4369G>C MANE Select ENSP00000245907.4:p.Asp1457His
NM_000064.3:c.4369G>C NP_000055.2:p.Asp1457His
ENST00000245907.10:c.4369G>C ENSP00000245907.4:p.Asp1457His
ENST00000596548.1:c.490G>C ENSP00000469744.1:p.Asp164His
ENST00000599899.5:n.1328G>C
ENST00000601008.1:c.242-2287G>C ENSP00000471384.1:n.242-2287G>C
ENST00000695651.1:n.2717G>C
ENST00000695653.1:c.2278G>C ENSP00000512084.1:p.Asp760His
ENST00000695654.1:c.3394G>C ENSP00000512085.1:p.Asp1132His
ENST00000695689.1:c.340G>C ENSP00000512101.1:n.340G>C
ENST00000695690.1:n.1434G>C
ENST00000695691.1:n.1230G>C