Canonical Allele Identifier: CA403632732

Gene: C3

Linked Data

• gnomAD v4: 19-6697394-C-A
• MyVariant Identifiers: chr19:g.6697405C>A (hg19) ; chr19:g.6697394C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697394C>A , CM000681.2:g.6697394C>A	GRCh38
NC_000019.9:g.6697405C>A , CM000681.1:g.6697405C>A	GRCh37
NC_000019.8:g.6648405C>A	NCBI36
NG_009557.1:g.28258G>T , LRG_27:g.28258G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1094G>T
ENST00000695652.1:c.2623G>T	ENSP00000512083.1:p.Val875Phe
ENST00000695653.1:c.655G>T	ENSP00000512084.1:p.Val219Phe
ENST00000695654.1:c.1870G>T	ENSP00000512085.1:p.Val624Phe
ENST00000695655.1:c.1687G>T	ENSP00000512086.1:n.1687G>T
ENST00000695692.1:n.2110G>T
ENST00000245907.11:c.2746G>T MANE Select	ENSP00000245907.4:p.Val916Phe
ENST00000245907.10:c.2746G>T	ENSP00000245907.4:p.Val916Phe
ENST00000594005.1:n.322G>T
NM_000064.3:c.2746G>T	NP_000055.2:p.Val916Phe
NM_000064.4:c.2746G>T MANE Select	NP_000055.2:p.Val916Phe