Canonical Allele Identifier: CA631722485
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1351045125
gnomAD v2: 19-6714509-G-A
gnomAD v4: 19-6714498-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714498G>A , CM000681.2:g.6714498G>A GRCh38
NC_000019.9:g.6714509G>A , CM000681.1:g.6714509G>A GRCh37
NC_000019.8:g.6665509G>A NCBI36
NG_009557.1:g.11154C>T , LRG_27:g.11154C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.382-52C>T ENSP00000512083.1:n.382-52C>T
ENST00000245907.11:c.505-52C>T MANE Select ENSP00000245907.4:n.505-52C>T
ENST00000245907.10:c.505-52C>T ENSP00000245907.4:n.505-52C>T
NM_000064.3:c.505-52C>T NP_000055.2:n.505-52C>T
NM_000064.4:c.505-52C>T MANE Select NP_000055.2:n.505-52C>T