Canonical Allele Identifier: CA2587873340
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6685996-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685996C>A , CM000681.2:g.6685996C>A GRCh38
NC_000019.9:g.6686007C>A , CM000681.1:g.6686007C>A GRCh37
NC_000019.8:g.6637007C>A NCBI36
NG_009557.1:g.39656G>T , LRG_27:g.39656G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.2158+128G>T
ENST00000695653.1:c.1719+128G>T ENSP00000512084.1:n.1719+128G>T
ENST00000695654.1:c.2835+128G>T ENSP00000512085.1:n.2835+128G>T
ENST00000245907.11:c.3810+128G>T MANE Select ENSP00000245907.4:n.3810+128G>T
ENST00000245907.10:c.3810+128G>T ENSP00000245907.4:n.3810+128G>T
ENST00000596238.1:n.253+128G>T
ENST00000601008.1:c.241+750G>T ENSP00000471384.1:n.241+750G>T
NM_000064.3:c.3810+128G>T NP_000055.2:n.3810+128G>T
NM_000064.4:c.3810+128G>T MANE Select NP_000055.2:n.3810+128G>T