Canonical Allele Identifier: CA2587872364
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6682420-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682420G>A , CM000681.2:g.6682420G>A GRCh38
NC_000019.9:g.6682431G>A , CM000681.1:g.6682431G>A GRCh37
NC_000019.8:g.6633431G>A NCBI36
NG_009557.1:g.43232C>T , LRG_27:g.43232C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2521-191C>T
ENST00000695653.1:c.2082-191C>T ENSP00000512084.1:n.2082-191C>T
ENST00000695654.1:c.3198-191C>T ENSP00000512085.1:n.3198-191C>T
ENST00000695689.1:c.143+187C>T ENSP00000512101.1:n.143+187C>T
ENST00000695690.1:n.364-191C>T
ENST00000695691.1:n.364-191C>T
ENST00000245907.11:c.4173-191C>T MANE Select ENSP00000245907.4:n.4173-191C>T
ENST00000245907.10:c.4173-191C>T ENSP00000245907.4:n.4173-191C>T
ENST00000596548.1:c.294-191C>T ENSP00000469744.1:n.294-191C>T
ENST00000599899.5:n.941C>T
ENST00000601008.1:c.241+4326C>T ENSP00000471384.1:n.241+4326C>T
NM_000064.3:c.4173-191C>T NP_000055.2:n.4173-191C>T
NM_000064.4:c.4173-191C>T MANE Select NP_000055.2:n.4173-191C>T