Canonical Allele Identifier: CA9129680
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs202100001
gnomAD v2: 19-6713955-C-A
gnomAD v3: 19-6713944-C-A
gnomAD v4: 19-6713944-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713944C>A , CM000681.2:g.6713944C>A GRCh38
NC_000019.9:g.6713955C>A , CM000681.1:g.6713955C>A GRCh37
NC_000019.8:g.6664955C>A NCBI36
NG_009557.1:g.11708G>T , LRG_27:g.11708G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.650+48G>T ENSP00000512083.1:n.650+48G>T
ENST00000245907.11:c.773+48G>T MANE Select ENSP00000245907.4:n.773+48G>T
ENST00000245907.10:c.773+48G>T ENSP00000245907.4:n.773+48G>T
ENST00000595577.1:n.277+48G>T
NM_000064.3:c.773+48G>T NP_000055.2:n.773+48G>T
NM_000064.4:c.773+48G>T MANE Select NP_000055.2:n.773+48G>T