Canonical Allele Identifier: CA304807302

Gene: C3

Linked Data

• dbSNP Id: rs994246869
• gnomAD v2: 19-6722542-C-T
• gnomAD v3: 19-6722531-C-T
• gnomAD v4: 19-6722531-C-T
• MyVariant Identifiers: chr19:g.6722542C>T (hg19) ; chr19:g.6722531C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6722531C>T , CM000681.2:g.6722531C>T	GRCh38
NC_000019.9:g.6722542C>T , CM000681.1:g.6722542C>T	GRCh37
NC_000019.8:g.6673542C>T	NCBI36
NG_009557.1:g.3121G>A , LRG_27:g.3121G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000600744.1:c.-50+910G>A	ENSP00000472044.1:n.-50+910G>A