Canonical Allele Identifier: CA403642820

Gene: C3

Linked Data

• gnomAD v4: 19-6713507-A-G
• MyVariant Identifiers: chr19:g.6713518A>G (hg19) ; chr19:g.6713507A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713507A>G , CM000681.2:g.6713507A>G	GRCh38
NC_000019.9:g.6713518A>G , CM000681.1:g.6713518A>G	GRCh37
NC_000019.8:g.6664518A>G	NCBI36
NG_009557.1:g.12145T>C , LRG_27:g.12145T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.653T>C	ENSP00000512083.1:p.Phe218Ser
ENST00000695692.1:n.100T>C
ENST00000245907.11:c.776T>C MANE Select	ENSP00000245907.4:p.Phe259Ser
ENST00000245907.10:c.776T>C	ENSP00000245907.4:p.Phe259Ser
ENST00000595577.1:n.280T>C
ENST00000597442.5:n.26T>C
NM_000064.3:c.776T>C	NP_000055.2:p.Phe259Ser
NM_000064.4:c.776T>C MANE Select	NP_000055.2:p.Phe259Ser