Canonical Allele Identifier: CA2582310603
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs2145389854
gnomAD v3: 19-6678967-C-T
gnomAD v4: 19-6678967-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6678967C>T , CM000681.2:g.6678967C>T GRCh38
NC_000019.9:g.6678978C>T , CM000681.1:g.6678978C>T GRCh37
NC_000019.8:g.6629978C>T NCBI36
NG_009557.1:g.46685G>A , LRG_27:g.46685G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2978+158G>A
ENST00000695653.1:c.2539+158G>A ENSP00000512084.1:n.2539+158G>A
ENST00000695654.1:c.3655+158G>A ENSP00000512085.1:n.3655+158G>A
ENST00000695689.1:c.601+158G>A ENSP00000512101.1:n.601+158G>A
ENST00000695690.1:n.1695+158G>A
ENST00000695691.1:n.1491+158G>A
ENST00000245907.11:c.4630+158G>A MANE Select ENSP00000245907.4:n.4630+158G>A
ENST00000245907.10:c.4630+158G>A ENSP00000245907.4:n.4630+158G>A
ENST00000599668.1:n.250+158G>A
ENST00000599899.5:n.1589+158G>A
ENST00000601008.1:c.242-1009G>A ENSP00000471384.1:n.242-1009G>A
ENST00000602229.1:c.77+158G>A
NM_000064.3:c.4630+158G>A NP_000055.2:n.4630+158G>A
NM_000064.4:c.4630+158G>A MANE Select NP_000055.2:n.4630+158G>A