Canonical Allele Identifier: CA304775584

Gene: C3

Linked Data

• dbSNP Id: rs906790369
• gnomAD v2: 19-6685916-G-C
• gnomAD v3: 19-6685905-G-C
• gnomAD v4: 19-6685905-G-C
• MyVariant Identifiers: chr19:g.6685916G>C (hg19) ; chr19:g.6685905G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685905G>C , CM000681.2:g.6685905G>C	GRCh38
NC_000019.9:g.6685916G>C , CM000681.1:g.6685916G>C	GRCh37
NC_000019.8:g.6636916G>C	NCBI36
NG_009557.1:g.39747C>G , LRG_27:g.39747C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.2158+219C>G
ENST00000695653.1:c.1719+219C>G	ENSP00000512084.1:n.1719+219C>G
ENST00000695654.1:c.2835+219C>G	ENSP00000512085.1:n.2835+219C>G
ENST00000245907.11:c.3810+219C>G MANE Select	ENSP00000245907.4:n.3810+219C>G
ENST00000245907.10:c.3810+219C>G	ENSP00000245907.4:n.3810+219C>G
ENST00000596238.1:n.253+219C>G
ENST00000601008.1:c.241+841C>G	ENSP00000471384.1:n.241+841C>G
NM_000064.3:c.3810+219C>G	NP_000055.2:n.3810+219C>G
NM_000064.4:c.3810+219C>G MANE Select	NP_000055.2:n.3810+219C>G