Canonical Allele Identifier: CA403615454

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6682209T>G (hg19) ; chr19:g.6682198T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682198T>G , CM000681.2:g.6682198T>G	GRCh38
NC_000019.9:g.6682209T>G , CM000681.1:g.6682209T>G	GRCh37
NC_000019.8:g.6633209T>G	NCBI36
NG_009557.1:g.43454A>C , LRG_27:g.43454A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2552A>C
ENST00000695653.1:c.2113A>C	ENSP00000512084.1:p.Ile705Leu
ENST00000695654.1:c.3229A>C	ENSP00000512085.1:p.Ile1077Leu
ENST00000695689.1:c.175A>C	ENSP00000512101.1:n.175A>C
ENST00000695690.1:n.395A>C
ENST00000695691.1:n.395A>C
ENST00000245907.11:c.4204A>C MANE Select	ENSP00000245907.4:p.Ile1402Leu
ENST00000245907.10:c.4204A>C	ENSP00000245907.4:p.Ile1402Leu
ENST00000596548.1:c.325A>C	ENSP00000469744.1:p.Ile109Leu
ENST00000599899.5:n.1163A>C
ENST00000601008.1:c.242-4240A>C	ENSP00000471384.1:n.242-4240A>C
NM_000064.3:c.4204A>C	NP_000055.2:p.Ile1402Leu
NM_000064.4:c.4204A>C MANE Select	NP_000055.2:p.Ile1402Leu