Canonical Allele Identifier: CA2587873331
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6685990-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685990C>G , CM000681.2:g.6685990C>G GRCh38
NC_000019.9:g.6686001C>G , CM000681.1:g.6686001C>G GRCh37
NC_000019.8:g.6637001C>G NCBI36
NG_009557.1:g.39662G>C , LRG_27:g.39662G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.2158+134G>C
ENST00000695653.1:c.1719+134G>C ENSP00000512084.1:n.1719+134G>C
ENST00000695654.1:c.2835+134G>C ENSP00000512085.1:n.2835+134G>C
ENST00000245907.11:c.3810+134G>C MANE Select ENSP00000245907.4:n.3810+134G>C
ENST00000245907.10:c.3810+134G>C ENSP00000245907.4:n.3810+134G>C
ENST00000596238.1:n.253+134G>C
ENST00000601008.1:c.241+756G>C ENSP00000471384.1:n.241+756G>C
NM_000064.3:c.3810+134G>C NP_000055.2:n.3810+134G>C
NM_000064.4:c.3810+134G>C MANE Select NP_000055.2:n.3810+134G>C