Canonical Allele Identifier: CA631722493
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1349657711
gnomAD v2: 19-6714645-G-A
gnomAD v3: 19-6714634-G-A
gnomAD v4: 19-6714634-G-A
MyVariant Identifiers: chr19:g.6714645G>A (hg19) chr19:g.6714634G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714634G>A , CM000681.2:g.6714634G>A GRCh38
NC_000019.9:g.6714645G>A , CM000681.1:g.6714645G>A GRCh37
NC_000019.8:g.6665645G>A NCBI36
NG_009557.1:g.11018C>T , LRG_27:g.11018C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.382-188C>T ENSP00000512083.1:n.382-188C>T
ENST00000245907.11:c.505-188C>T MANE Select ENSP00000245907.4:n.505-188C>T
ENST00000245907.10:c.505-188C>T ENSP00000245907.4:n.505-188C>T
NM_000064.3:c.505-188C>T NP_000055.2:n.505-188C>T
NM_000064.4:c.505-188C>T MANE Select NP_000055.2:n.505-188C>T
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