Canonical Allele Identifier: CA403618584

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6685131C>A (hg19) ; chr19:g.6685120C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685120C>A , CM000681.2:g.6685120C>A	GRCh38
NC_000019.9:g.6685131C>A , CM000681.1:g.6685131C>A	GRCh37
NC_000019.8:g.6636131C>A	NCBI36
NG_009557.1:g.40532G>T , LRG_27:g.40532G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.2185G>T
ENST00000695653.1:c.1746G>T	ENSP00000512084.1:p.Leu582Phe
ENST00000695654.1:c.2862G>T	ENSP00000512085.1:p.Leu954Phe
ENST00000695690.1:n.28G>T
ENST00000695691.1:n.28G>T
ENST00000245907.11:c.3837G>T MANE Select	ENSP00000245907.4:p.Leu1279Phe
ENST00000245907.10:c.3837G>T	ENSP00000245907.4:p.Leu1279Phe
ENST00000596238.1:n.280G>T
ENST00000601008.1:c.241+1626G>T	ENSP00000471384.1:n.241+1626G>T
NM_000064.3:c.3837G>T	NP_000055.2:p.Leu1279Phe
NM_000064.4:c.3837G>T MANE Select	NP_000055.2:p.Leu1279Phe