Canonical Allele Identifier: CA403612823

Gene: C3

Linked Data

• gnomAD v4: 19-6679470-G-A
• MyVariant Identifiers: chr19:g.6679481G>A (hg19) ; chr19:g.6679470G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679470G>A , CM000681.2:g.6679470G>A	GRCh38
NC_000019.9:g.6679481G>A , CM000681.1:g.6679481G>A	GRCh37
NC_000019.8:g.6630481G>A	NCBI36
NG_009557.1:g.46182C>T , LRG_27:g.46182C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2831C>T
ENST00000695653.1:c.2392C>T	ENSP00000512084.1:p.Pro798Ser
ENST00000695654.1:c.3508C>T	ENSP00000512085.1:p.Pro1170Ser
ENST00000695689.1:c.454C>T	ENSP00000512101.1:n.454C>T
ENST00000695690.1:n.1548C>T
ENST00000695691.1:n.1344C>T
ENST00000245907.11:c.4483C>T MANE Select	ENSP00000245907.4:p.Pro1495Ser
ENST00000245907.10:c.4483C>T	ENSP00000245907.4:p.Pro1495Ser
ENST00000599668.1:n.78C>T
ENST00000599899.5:n.1442C>T
ENST00000601008.1:c.242-1512C>T	ENSP00000471384.1:n.242-1512C>T
NM_000064.3:c.4483C>T	NP_000055.2:p.Pro1495Ser
NM_000064.4:c.4483C>T MANE Select	NP_000055.2:p.Pro1495Ser