Canonical Allele Identifier: CA403642510

Gene: C3

Linked Data

• gnomAD v4: 19-6713429-G-A
• MyVariant Identifiers: chr19:g.6713440G>A (hg19) ; chr19:g.6713429G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713429G>A , CM000681.2:g.6713429G>A	GRCh38
NC_000019.9:g.6713440G>A , CM000681.1:g.6713440G>A	GRCh37
NC_000019.8:g.6664440G>A	NCBI36
NG_009557.1:g.12223C>T , LRG_27:g.12223C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.731C>T	ENSP00000512083.1:p.Pro244Leu
ENST00000695692.1:n.178C>T
ENST00000245907.11:c.854C>T MANE Select	ENSP00000245907.4:p.Pro285Leu
ENST00000245907.10:c.854C>T	ENSP00000245907.4:p.Pro285Leu
ENST00000595577.1:n.358C>T
ENST00000597442.5:n.104C>T
NM_000064.3:c.854C>T	NP_000055.2:p.Pro285Leu
NM_000064.4:c.854C>T MANE Select	NP_000055.2:p.Pro285Leu