Canonical Allele Identifier: CA403618366

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6685049T>G (hg19) ; chr19:g.6685038T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685038T>G , CM000681.2:g.6685038T>G	GRCh38
NC_000019.9:g.6685049T>G , CM000681.1:g.6685049T>G	GRCh37
NC_000019.8:g.6636049T>G	NCBI36
NG_009557.1:g.40614A>C , LRG_27:g.40614A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2267A>C
ENST00000695653.1:c.1828A>C	ENSP00000512084.1:p.Ile610Leu
ENST00000695654.1:c.2944A>C	ENSP00000512085.1:p.Ile982Leu
ENST00000695690.1:n.110A>C
ENST00000695691.1:n.110A>C
ENST00000245907.11:c.3919A>C MANE Select	ENSP00000245907.4:p.Ile1307Leu
ENST00000245907.10:c.3919A>C	ENSP00000245907.4:p.Ile1307Leu
ENST00000596238.1:n.362A>C
ENST00000596548.1:c.1A>C	ENSP00000469744.1:p.Ile1Leu
ENST00000601008.1:c.241+1708A>C	ENSP00000471384.1:n.241+1708A>C
NM_000064.3:c.3919A>C	NP_000055.2:p.Ile1307Leu
NM_000064.4:c.3919A>C MANE Select	NP_000055.2:p.Ile1307Leu