Canonical Allele Identifier: CA884128576
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1179111255
gnomAD v3: 19-6679811-C-A
gnomAD v4: 19-6679811-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679811C>A , CM000681.2:g.6679811C>A GRCh38
NC_000019.9:g.6679822C>A , CM000681.1:g.6679822C>A GRCh37
NC_000019.8:g.6630822C>A NCBI36
NG_009557.1:g.45841G>T , LRG_27:g.45841G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2805-315G>T
ENST00000695653.1:c.2366-315G>T ENSP00000512084.1:n.2366-315G>T
ENST00000695654.1:c.3482-315G>T ENSP00000512085.1:n.3482-315G>T
ENST00000695689.1:c.428-315G>T ENSP00000512101.1:n.428-315G>T
ENST00000695690.1:n.1522-315G>T
ENST00000695691.1:n.1318-315G>T
ENST00000245907.11:c.4457-315G>T MANE Select ENSP00000245907.4:n.4457-315G>T
ENST00000245907.10:c.4457-315G>T ENSP00000245907.4:n.4457-315G>T
ENST00000599668.1:n.51+290G>T
ENST00000599899.5:n.1416-315G>T
ENST00000601008.1:c.242-1853G>T ENSP00000471384.1:n.242-1853G>T
NM_000064.3:c.4457-315G>T NP_000055.2:n.4457-315G>T
NM_000064.4:c.4457-315G>T MANE Select NP_000055.2:n.4457-315G>T