Canonical Allele Identifier: CA403643280

Gene: C3

Linked Data

• gnomAD v4: 19-6714247-T-A
• MyVariant Identifiers: chr19:g.6714258T>A (hg19) ; chr19:g.6714247T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714247T>A , CM000681.2:g.6714247T>A	GRCh38
NC_000019.9:g.6714258T>A , CM000681.1:g.6714258T>A	GRCh37
NC_000019.8:g.6665258T>A	NCBI36
NG_009557.1:g.11405A>T , LRG_27:g.11405A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.478A>T	ENSP00000512083.1:p.Met160Leu
ENST00000245907.11:c.601A>T MANE Select	ENSP00000245907.4:p.Met201Leu
ENST00000245907.10:c.601A>T	ENSP00000245907.4:p.Met201Leu
ENST00000595577.1:n.105A>T
NM_000064.3:c.601A>T	NP_000055.2:p.Met201Leu
NM_000064.4:c.601A>T MANE Select	NP_000055.2:p.Met201Leu