Canonical Allele Identifier: CA403614946

Gene: C3

Linked Data

• gnomAD v4: 19-6682007-G-C
• MyVariant Identifiers: chr19:g.6682018G>C (hg19) ; chr19:g.6682007G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682007G>C , CM000681.2:g.6682007G>C	GRCh38
NC_000019.9:g.6682018G>C , CM000681.1:g.6682018G>C	GRCh37
NC_000019.8:g.6633018G>C	NCBI36
NG_009557.1:g.43645C>G , LRG_27:g.43645C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2632C>G
ENST00000695653.1:c.2193C>G	ENSP00000512084.1:p.Tyr731Ter
ENST00000695654.1:c.3309C>G	ENSP00000512085.1:p.Tyr1103Ter
ENST00000695689.1:c.255C>G	ENSP00000512101.1:n.255C>G
ENST00000695690.1:n.475C>G
ENST00000695691.1:n.475C>G
ENST00000245907.11:c.4284C>G MANE Select	ENSP00000245907.4:p.Tyr1428Ter
ENST00000245907.10:c.4284C>G	ENSP00000245907.4:p.Tyr1428Ter
ENST00000596548.1:c.405C>G	ENSP00000469744.1:p.Tyr135Ter
ENST00000599899.5:n.1243C>G
ENST00000601008.1:c.242-4049C>G	ENSP00000471384.1:n.242-4049C>G
NM_000064.3:c.4284C>G	NP_000055.2:p.Tyr1428Ter
NM_000064.4:c.4284C>G MANE Select	NP_000055.2:p.Tyr1428Ter