Canonical Allele Identifier: CA403618332

Gene: C3

Linked Data

• ClinVar Variation Id: 1721617
• ClinVar RCV Id: RCV002302145
• gnomAD v4: 19-6685022-T-G
• MyVariant Identifiers: chr19:g.6685033T>G (hg19) ; chr19:g.6685022T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685022T>G , CM000681.2:g.6685022T>G	GRCh38
NC_000019.9:g.6685033T>G , CM000681.1:g.6685033T>G	GRCh37
NC_000019.8:g.6636033T>G	NCBI36
NG_009557.1:g.40630A>C , LRG_27:g.40630A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2283A>C
ENST00000695653.1:c.1844A>C	ENSP00000512084.1:p.His615Pro
ENST00000695654.1:c.2960A>C	ENSP00000512085.1:p.His987Pro
ENST00000695690.1:n.126A>C
ENST00000695691.1:n.126A>C
ENST00000245907.11:c.3935A>C MANE Select	ENSP00000245907.4:p.His1312Pro
ENST00000245907.10:c.3935A>C	ENSP00000245907.4:p.His1312Pro
ENST00000596238.1:n.378A>C
ENST00000596548.1:c.17A>C	ENSP00000469744.1:p.His6Pro
ENST00000601008.1:c.241+1724A>C	ENSP00000471384.1:n.241+1724A>C
NM_000064.3:c.3935A>C	NP_000055.2:p.His1312Pro
NM_000064.4:c.3935A>C MANE Select	NP_000055.2:p.His1312Pro