Canonical Allele Identifier: CA403639131

Gene: C3

Linked Data

• gnomAD v4: 19-6709684-C-A
• MyVariant Identifiers: chr19:g.6709695C>A (hg19) ; chr19:g.6709684C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709684C>A , CM000681.2:g.6709684C>A	GRCh38
NC_000019.9:g.6709695C>A , CM000681.1:g.6709695C>A	GRCh37
NC_000019.8:g.6660695C>A	NCBI36
NG_009557.1:g.15968G>T , LRG_27:g.15968G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695652.1:c.1722G>T	ENSP00000512083.1:p.Lys574Asn
ENST00000695654.1:c.969G>T	ENSP00000512085.1:p.Lys323Asn
ENST00000695655.1:c.786G>T	ENSP00000512086.1:n.786G>T
ENST00000695692.1:n.1209G>T
ENST00000245907.11:c.1845G>T MANE Select	ENSP00000245907.4:p.Lys615Asn
ENST00000245907.10:c.1845G>T	ENSP00000245907.4:p.Lys615Asn
NM_000064.3:c.1845G>T	NP_000055.2:p.Lys615Asn
NM_000064.4:c.1845G>T MANE Select	NP_000055.2:p.Lys615Asn