Canonical Allele Identifier: CA403615541

Gene: C3

Linked Data

• dbSNP Id: rs1324291628
• gnomAD v2: 19-6682227-G-T
• gnomAD v4: 19-6682216-G-T
• MyVariant Identifiers: chr19:g.6682227G>T (hg19) ; chr19:g.6682216G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682216G>T , CM000681.2:g.6682216G>T	GRCh38
NC_000019.9:g.6682227G>T , CM000681.1:g.6682227G>T	GRCh37
NC_000019.8:g.6633227G>T	NCBI36
NG_009557.1:g.43436C>A , LRG_27:g.43436C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2534C>A
ENST00000695653.1:c.2095C>A	ENSP00000512084.1:p.Gln699Lys
ENST00000695654.1:c.3211C>A	ENSP00000512085.1:p.Gln1071Lys
ENST00000695689.1:c.157C>A	ENSP00000512101.1:n.157C>A
ENST00000695690.1:n.377C>A
ENST00000695691.1:n.377C>A
ENST00000245907.11:c.4186C>A MANE Select	ENSP00000245907.4:p.Gln1396Lys
ENST00000245907.10:c.4186C>A	ENSP00000245907.4:p.Gln1396Lys
ENST00000596548.1:c.307C>A	ENSP00000469744.1:p.Gln103Lys
ENST00000599899.5:n.1145C>A
ENST00000601008.1:c.242-4258C>A	ENSP00000471384.1:n.242-4258C>A
NM_000064.3:c.4186C>A	NP_000055.2:p.Gln1396Lys
NM_000064.4:c.4186C>A MANE Select	NP_000055.2:p.Gln1396Lys