Canonical Allele Identifier: CA505124933

Gene: C3

Linked Data

• gnomAD v4: 19-6714014-G-A
• MyVariant Identifiers: chr19:g.6714025G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714014G>A , CM000681.2:g.6714014G>A	GRCh38
NC_000019.9:g.6714025G>A , CM000681.1:g.6714025G>A	GRCh37
NC_000019.8:g.6665025G>A	NCBI36
NG_009557.1:g.11638C>T , LRG_27:g.11638C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.628C>T	ENSP00000512083.1:p.Leu210=
ENST00000245907.11:c.751C>T MANE Select	ENSP00000245907.4:p.Leu251=
ENST00000245907.10:c.751C>T	ENSP00000245907.4:p.Leu251=
ENST00000595577.1:n.255C>T
NM_000064.3:c.751C>T	NP_000055.2:p.Leu251=
NM_000064.4:c.751C>T MANE Select	NP_000055.2:p.Leu251=