Canonical Allele Identifier: CA403615412

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6682194T>A (hg19) ; chr19:g.6682183T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682183T>A , CM000681.2:g.6682183T>A	GRCh38
NC_000019.9:g.6682194T>A , CM000681.1:g.6682194T>A	GRCh37
NC_000019.8:g.6633194T>A	NCBI36
NG_009557.1:g.43469A>T , LRG_27:g.43469A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2567A>T
ENST00000695653.1:c.2128A>T	ENSP00000512084.1:p.Met710Leu
ENST00000695654.1:c.3244A>T	ENSP00000512085.1:p.Met1082Leu
ENST00000695689.1:c.190A>T	ENSP00000512101.1:n.190A>T
ENST00000695690.1:n.410A>T
ENST00000695691.1:n.410A>T
ENST00000245907.11:c.4219A>T MANE Select	ENSP00000245907.4:p.Met1407Leu
ENST00000245907.10:c.4219A>T	ENSP00000245907.4:p.Met1407Leu
ENST00000596548.1:c.340A>T	ENSP00000469744.1:p.Met114Leu
ENST00000599899.5:n.1178A>T
ENST00000601008.1:c.242-4225A>T	ENSP00000471384.1:n.242-4225A>T
NM_000064.3:c.4219A>T	NP_000055.2:p.Met1407Leu
NM_000064.4:c.4219A>T MANE Select	NP_000055.2:p.Met1407Leu