Canonical Allele Identifier: CA9128445

Gene: C3

Linked Data

• dbSNP Id: rs772763964
• ExAC: 19:6682035 T / G
• gnomAD v2: 19-6682035-T-G
• MyVariant Identifiers: chr19:g.6682035T>G (hg19) ; chr19:g.6682024T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682024T>G , CM000681.2:g.6682024T>G	GRCh38
NC_000019.9:g.6682035T>G , CM000681.1:g.6682035T>G	GRCh37
NC_000019.8:g.6633035T>G	NCBI36
NG_009557.1:g.43628A>C , LRG_27:g.43628A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2615A>C
ENST00000695653.1:c.2176A>C	ENSP00000512084.1:p.Asn726His
ENST00000695654.1:c.3292A>C	ENSP00000512085.1:p.Asn1098His
ENST00000695689.1:c.238A>C	ENSP00000512101.1:n.238A>C
ENST00000695690.1:n.458A>C
ENST00000695691.1:n.458A>C
ENST00000245907.11:c.4267A>C MANE Select	ENSP00000245907.4:p.Asn1423His
ENST00000245907.10:c.4267A>C	ENSP00000245907.4:p.Asn1423His
ENST00000596548.1:c.388A>C	ENSP00000469744.1:p.Asn130His
ENST00000599899.5:n.1226A>C
ENST00000601008.1:c.242-4066A>C	ENSP00000471384.1:n.242-4066A>C
NM_000064.3:c.4267A>C	NP_000055.2:p.Asn1423His
NM_000064.4:c.4267A>C MANE Select	NP_000055.2:p.Asn1423His