Canonical Allele Identifier: CA304773154

Gene: C3

Linked Data

• dbSNP Id: rs546476846
• gnomAD v2: 19-6682366-G-A
• gnomAD v3: 19-6682355-G-A
• gnomAD v4: 19-6682355-G-A
• MyVariant Identifiers: chr19:g.6682366G>A (hg19) ; chr19:g.6682355G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682355G>A , CM000681.2:g.6682355G>A	GRCh38
NC_000019.9:g.6682366G>A , CM000681.1:g.6682366G>A	GRCh37
NC_000019.8:g.6633366G>A	NCBI36
NG_009557.1:g.43297C>T , LRG_27:g.43297C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2521-126C>T
ENST00000695653.1:c.2082-126C>T	ENSP00000512084.1:n.2082-126C>T
ENST00000695654.1:c.3198-126C>T	ENSP00000512085.1:n.3198-126C>T
ENST00000695689.1:c.144-126C>T	ENSP00000512101.1:n.144-126C>T
ENST00000695690.1:n.364-126C>T
ENST00000695691.1:n.364-126C>T
ENST00000245907.11:c.4173-126C>T MANE Select	ENSP00000245907.4:n.4173-126C>T
ENST00000245907.10:c.4173-126C>T	ENSP00000245907.4:n.4173-126C>T
ENST00000596548.1:c.294-126C>T	ENSP00000469744.1:n.294-126C>T
ENST00000599899.5:n.1006C>T
ENST00000601008.1:c.241+4391C>T	ENSP00000471384.1:n.241+4391C>T
NM_000064.3:c.4173-126C>T	NP_000055.2:n.4173-126C>T
NM_000064.4:c.4173-126C>T MANE Select	NP_000055.2:n.4173-126C>T