Canonical Allele Identifier: CA403612850

Gene: C3

Linked Data

• gnomAD v4: 19-6679481-C-A
• MyVariant Identifiers: chr19:g.6679492C>A (hg19) ; chr19:g.6679481C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679481C>A , CM000681.2:g.6679481C>A	GRCh38
NC_000019.9:g.6679492C>A , CM000681.1:g.6679492C>A	GRCh37
NC_000019.8:g.6630492C>A	NCBI36
NG_009557.1:g.46171G>T , LRG_27:g.46171G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2820G>T
ENST00000695653.1:c.2381G>T	ENSP00000512084.1:p.Arg794Leu
ENST00000695654.1:c.3497G>T	ENSP00000512085.1:p.Arg1166Leu
ENST00000695689.1:c.443G>T	ENSP00000512101.1:n.443G>T
ENST00000695690.1:n.1537G>T
ENST00000695691.1:n.1333G>T
ENST00000245907.11:c.4472G>T MANE Select	ENSP00000245907.4:p.Arg1491Leu
ENST00000245907.10:c.4472G>T	ENSP00000245907.4:p.Arg1491Leu
ENST00000599668.1:n.67G>T
ENST00000599899.5:n.1431G>T
ENST00000601008.1:c.242-1523G>T	ENSP00000471384.1:n.242-1523G>T
NM_000064.3:c.4472G>T	NP_000055.2:p.Arg1491Leu
NM_000064.4:c.4472G>T MANE Select	NP_000055.2:p.Arg1491Leu