Canonical Allele Identifier: CA403618594

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6685133A>T (hg19) ; chr19:g.6685122A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685122A>T , CM000681.2:g.6685122A>T	GRCh38
NC_000019.9:g.6685133A>T , CM000681.1:g.6685133A>T	GRCh37
NC_000019.8:g.6636133A>T	NCBI36
NG_009557.1:g.40530T>A , LRG_27:g.40530T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.2183T>A
ENST00000695653.1:c.1744T>A	ENSP00000512084.1:p.Leu582Met
ENST00000695654.1:c.2860T>A	ENSP00000512085.1:p.Leu954Met
ENST00000695690.1:n.26T>A
ENST00000695691.1:n.26T>A
ENST00000245907.11:c.3835T>A MANE Select	ENSP00000245907.4:p.Leu1279Met
ENST00000245907.10:c.3835T>A	ENSP00000245907.4:p.Leu1279Met
ENST00000596238.1:n.278T>A
ENST00000601008.1:c.241+1624T>A	ENSP00000471384.1:n.241+1624T>A
NM_000064.3:c.3835T>A	NP_000055.2:p.Leu1279Met
NM_000064.4:c.3835T>A MANE Select	NP_000055.2:p.Leu1279Met