Canonical Allele Identifier: CA993078083
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1599525383
gnomAD v3: 19-6713876-A-C
gnomAD v4: 19-6713876-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713876A>C , CM000681.2:g.6713876A>C GRCh38
NC_000019.9:g.6713887A>C , CM000681.1:g.6713887A>C GRCh37
NC_000019.8:g.6664887A>C NCBI36
NG_009557.1:g.11776T>G , LRG_27:g.11776T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.650+116T>G ENSP00000512083.1:n.650+116T>G
ENST00000245907.11:c.773+116T>G MANE Select ENSP00000245907.4:n.773+116T>G
ENST00000245907.10:c.773+116T>G ENSP00000245907.4:n.773+116T>G
ENST00000595577.1:n.277+116T>G
NM_000064.3:c.773+116T>G NP_000055.2:n.773+116T>G
NM_000064.4:c.773+116T>G MANE Select NP_000055.2:n.773+116T>G
Search 100 bp 5'
Search 100 bp 3'