Canonical Allele Identifier: CA403615049

Gene: C3

Linked Data

• dbSNP Id: rs1917877717
• gnomAD v3: 19-6682031-C-A
• gnomAD v4: 19-6682031-C-A
• MyVariant Identifiers: chr19:g.6682042C>A (hg19) ; chr19:g.6682031C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682031C>A , CM000681.2:g.6682031C>A	GRCh38
NC_000019.9:g.6682042C>A , CM000681.1:g.6682042C>A	GRCh37
NC_000019.8:g.6633042C>A	NCBI36
NG_009557.1:g.43621G>T , LRG_27:g.43621G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2609-1G>T
ENST00000695653.1:c.2170-1G>T	ENSP00000512084.1:n.2170-1G>T
ENST00000695654.1:c.3286-1G>T	ENSP00000512085.1:n.3286-1G>T
ENST00000695689.1:c.232-1G>T	ENSP00000512101.1:n.232-1G>T
ENST00000695690.1:n.452-1G>T
ENST00000695691.1:n.452-1G>T
ENST00000245907.11:c.4261-1G>T MANE Select	ENSP00000245907.4:n.4261-1G>T
ENST00000245907.10:c.4261-1G>T	ENSP00000245907.4:n.4261-1G>T
ENST00000596548.1:c.382-1G>T	ENSP00000469744.1:n.382-1G>T
ENST00000599899.5:n.1220-1G>T
ENST00000601008.1:c.242-4073G>T	ENSP00000471384.1:n.242-4073G>T
NM_000064.3:c.4261-1G>T	NP_000055.2:n.4261-1G>T
NM_000064.4:c.4261-1G>T MANE Select	NP_000055.2:n.4261-1G>T