Canonical Allele Identifier: CA993066526

Gene: C3

Linked Data

• dbSNP Id: rs1917993907
• gnomAD v3: 19-6685930-A-C
• gnomAD v4: 19-6685930-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685930A>C , CM000681.2:g.6685930A>C	GRCh38
NC_000019.9:g.6685941A>C , CM000681.1:g.6685941A>C	GRCh37
NC_000019.8:g.6636941A>C	NCBI36
NG_009557.1:g.39722T>G , LRG_27:g.39722T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2158+194T>G
ENST00000695653.1:c.1719+194T>G	ENSP00000512084.1:n.1719+194T>G
ENST00000695654.1:c.2835+194T>G	ENSP00000512085.1:n.2835+194T>G
ENST00000245907.11:c.3810+194T>G MANE Select	ENSP00000245907.4:n.3810+194T>G
ENST00000245907.10:c.3810+194T>G	ENSP00000245907.4:n.3810+194T>G
ENST00000596238.1:n.253+194T>G
ENST00000601008.1:c.241+816T>G	ENSP00000471384.1:n.241+816T>G
NM_000064.3:c.3810+194T>G	NP_000055.2:n.3810+194T>G
NM_000064.4:c.3810+194T>G MANE Select	NP_000055.2:n.3810+194T>G