Canonical Allele Identifier: CA14633508
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs344550
gnomAD v2: 19-6682953-C-G
gnomAD v3: 19-6682942-C-G
gnomAD v4: 19-6682942-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682942C>G , CM000681.2:g.6682942C>G GRCh38
NC_000019.9:g.6682953C>G , CM000681.1:g.6682953C>G GRCh37
NC_000019.8:g.6633953C>G NCBI36
NG_009557.1:g.42710G>C , LRG_27:g.42710G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.2521-713G>C
ENST00000695653.1:c.2082-713G>C ENSP00000512084.1:n.2082-713G>C
ENST00000695654.1:c.3198-713G>C ENSP00000512085.1:n.3198-713G>C
ENST00000695689.1:c.84-276G>C ENSP00000512101.1:n.84-276G>C
ENST00000695690.1:n.364-713G>C
ENST00000695691.1:n.364-713G>C
ENST00000245907.11:c.4173-713G>C MANE Select ENSP00000245907.4:n.4173-713G>C
ENST00000245907.10:c.4173-713G>C ENSP00000245907.4:n.4173-713G>C
ENST00000596548.1:c.294-713G>C ENSP00000469744.1:n.294-713G>C
ENST00000599899.5:n.419G>C
ENST00000601008.1:c.241+3804G>C ENSP00000471384.1:n.241+3804G>C
NM_000064.3:c.4173-713G>C NP_000055.2:n.4173-713G>C
NM_000064.4:c.4173-713G>C MANE Select NP_000055.2:n.4173-713G>C