Canonical Allele Identifier: CA631662275
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1363779096
gnomAD v2: 19-6713741-C-CCCCAGCCCCCCACCTTCCCCACT
gnomAD v3: 19-6713730-C-CCCCAGCCCCCCACCTTCCCCACT
gnomAD v4: 19-6713730-C-CCCCAGCCCCCCACCTTCCCCACT
MyVariant Identifiers: chr19:g.6713741_6713742insCCCAGCCCCCCACCTTCCCCACT (hg19) chr19:g.6713730_6713731insCCCAGCCCCCCACCTTCCCCACT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713741_6713763dup , CM000681.2:g.6713741_6713763dup GRCh38
NC_000019.9:g.6713752_6713774dup , CM000681.1:g.6713752_6713774dup GRCh37
NC_000019.8:g.6664752_6664774dup NCBI36
NG_009557.1:g.11899_11921dup , LRG_27:g.11899_11921dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.650+239_651-222dup ENSP00000512083.1:n.650+239_651-222dup
ENST00000245907.11:c.773+239_774-222dup MANE Select ENSP00000245907.4:n.773+239_774-222dup
ENST00000245907.10:c.773+239_774-222dup ENSP00000245907.4:n.773+239_774-222dup
ENST00000595577.1:n.277+239_278-222dup
ENST00000597442.5:n.23+13_23+35dup
NM_000064.3:c.773+239_774-222dup NP_000055.2:n.773+239_774-222dup
NM_000064.4:c.773+239_774-222dup MANE Select NP_000055.2:n.773+239_774-222dup
Search 100 bp 5'
Search 100 bp 3'