Canonical Allele Identifier: CA2320553377
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1599500830
gnomAD v4: 19-6686017-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686017T>G , CM000681.2:g.6686017T>G GRCh38
NC_000019.9:g.6686028T>G , CM000681.1:g.6686028T>G GRCh37
NC_000019.8:g.6637028T>G NCBI36
NG_009557.1:g.39635A>C , LRG_27:g.39635A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2158+107A>C
ENST00000695653.1:c.1719+107A>C ENSP00000512084.1:n.1719+107A>C
ENST00000695654.1:c.2835+107A>C ENSP00000512085.1:n.2835+107A>C
ENST00000245907.11:c.3810+107A>C MANE Select ENSP00000245907.4:n.3810+107A>C
ENST00000245907.10:c.3810+107A>C ENSP00000245907.4:n.3810+107A>C
ENST00000596238.1:n.253+107A>C
ENST00000601008.1:c.241+729A>C ENSP00000471384.1:n.241+729A>C
NM_000064.3:c.3810+107A>C NP_000055.2:n.3810+107A>C
NM_000064.4:c.3810+107A>C MANE Select NP_000055.2:n.3810+107A>C
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