Canonical Allele Identifier: CA9128721
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs781520654
gnomAD v2: 19-6690634-A-G
gnomAD v3: 19-6690623-A-G
gnomAD v4: 19-6690623-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6690623A>G , CM000681.2:g.6690623A>G GRCh38
NC_000019.9:g.6690634A>G , CM000681.1:g.6690634A>G GRCh37
NC_000019.8:g.6641634A>G NCBI36
NG_009557.1:g.35029T>C , LRG_27:g.35029T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.1837+6T>C
ENST00000695652.1:c.3366+6T>C ENSP00000512083.1:n.3366+6T>C
ENST00000695653.1:c.1398+6T>C ENSP00000512084.1:n.1398+6T>C
ENST00000695654.1:c.2514+2301T>C ENSP00000512085.1:n.2514+2301T>C
ENST00000695655.1:c.2430+6T>C ENSP00000512086.1:n.2430+6T>C
ENST00000695692.1:n.2853+6T>C
ENST00000245907.11:c.3489+6T>C MANE Select ENSP00000245907.4:n.3489+6T>C
ENST00000245907.10:c.3489+6T>C ENSP00000245907.4:n.3489+6T>C
ENST00000598805.2:n.259+6T>C
ENST00000601008.1:c.84+6T>C ENSP00000471384.1:n.84+6T>C
NM_000064.3:c.3489+6T>C NP_000055.2:n.3489+6T>C
NM_000064.4:c.3489+6T>C MANE Select NP_000055.2:n.3489+6T>C