Canonical Allele Identifier: CA2587881049
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6719456-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6719456C>G , CM000681.2:g.6719456C>G GRCh38
NC_000019.9:g.6719467C>G , CM000681.1:g.6719467C>G GRCh37
NC_000019.8:g.6670467C>G NCBI36
NG_009557.1:g.6196G>C , LRG_27:g.6196G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000594936.2:n.136-53G>C
ENST00000695652.1:c.-49-53G>C ENSP00000512083.1:n.-49-53G>C
ENST00000695693.1:c.75-53G>C ENSP00000512104.1:n.75-53G>C
ENST00000245907.11:c.75-53G>C MANE Select ENSP00000245907.4:n.75-53G>C
ENST00000245907.10:c.75-53G>C ENSP00000245907.4:n.75-53G>C
ENST00000594936.1:n.136-53G>C
ENST00000600744.1:c.-49-53G>C ENSP00000472044.1:n.-49-53G>C
NM_000064.3:c.75-53G>C NP_000055.2:n.75-53G>C
NM_000064.4:c.75-53G>C MANE Select NP_000055.2:n.75-53G>C
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