Canonical Allele Identifier: CA14738874
Gene: C3 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6678742A>G , CM000681.2:g.6678742A>G GRCh38
NC_000019.9:g.6678753A>G , CM000681.1:g.6678753A>G GRCh37
NC_000019.8:g.6629753A>G NCBI36
NG_009557.1:g.46910T>C , LRG_27:g.46910T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2979-287T>C
ENST00000695653.1:c.2540-287T>C ENSP00000512084.1:n.2540-287T>C
ENST00000695654.1:c.3656-287T>C ENSP00000512085.1:n.3656-287T>C
ENST00000695689.1:c.602-287T>C ENSP00000512101.1:n.602-287T>C
ENST00000695690.1:n.1696-287T>C
ENST00000695691.1:n.1492-287T>C
ENST00000245907.11:c.4631-287T>C MANE Select ENSP00000245907.4:n.4631-287T>C
ENST00000245907.10:c.4631-287T>C ENSP00000245907.4:n.4631-287T>C
ENST00000599668.1:n.251-287T>C
ENST00000599899.5:n.1590-287T>C
ENST00000601008.1:c.242-784T>C ENSP00000471384.1:n.242-784T>C
ENST00000602229.1:c.78-287T>C
NM_000064.3:c.4631-287T>C NP_000055.2:n.4631-287T>C
NM_000064.4:c.4631-287T>C MANE Select NP_000055.2:n.4631-287T>C