Canonical Allele Identifier: CA2587872720
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6682952-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682952G>C , CM000681.2:g.6682952G>C GRCh38
NC_000019.9:g.6682963G>C , CM000681.1:g.6682963G>C GRCh37
NC_000019.8:g.6633963G>C NCBI36
NG_009557.1:g.42700C>G , LRG_27:g.42700C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.2521-723C>G
ENST00000695653.1:c.2082-723C>G ENSP00000512084.1:n.2082-723C>G
ENST00000695654.1:c.3198-723C>G ENSP00000512085.1:n.3198-723C>G
ENST00000695689.1:c.84-286C>G ENSP00000512101.1:n.84-286C>G
ENST00000695690.1:n.364-723C>G
ENST00000695691.1:n.364-723C>G
ENST00000245907.11:c.4173-723C>G MANE Select ENSP00000245907.4:n.4173-723C>G
ENST00000245907.10:c.4173-723C>G ENSP00000245907.4:n.4173-723C>G
ENST00000596548.1:c.294-723C>G ENSP00000469744.1:n.294-723C>G
ENST00000599899.5:n.409C>G
ENST00000601008.1:c.241+3794C>G ENSP00000471384.1:n.241+3794C>G
NM_000064.3:c.4173-723C>G NP_000055.2:n.4173-723C>G
NM_000064.4:c.4173-723C>G MANE Select NP_000055.2:n.4173-723C>G