Canonical Allele Identifier: CA403633987

Gene: C3

Linked Data

• ClinVar Variation Id: 1945281
• ClinVar RCV Id: RCV002640127
• dbSNP Id: rs200388595
• gnomAD v3: 19-6697729-G-A
• gnomAD v4: 19-6697729-G-A
• MyVariant Identifiers: chr19:g.6697740G>A (hg19) ; chr19:g.6697729G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697729G>A , CM000681.2:g.6697729G>A	GRCh38
NC_000019.9:g.6697740G>A , CM000681.1:g.6697740G>A	GRCh37
NC_000019.8:g.6648740G>A	NCBI36
NG_009557.1:g.27923C>T , LRG_27:g.27923C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.854C>T
ENST00000695652.1:c.2383C>T	ENSP00000512083.1:p.Pro795Ser
ENST00000695653.1:c.415C>T	ENSP00000512084.1:p.Pro139Ser
ENST00000695654.1:c.1630C>T	ENSP00000512085.1:p.Pro544Ser
ENST00000695655.1:c.1447C>T	ENSP00000512086.1:n.1447C>T
ENST00000695692.1:n.1870C>T
ENST00000245907.11:c.2506C>T MANE Select	ENSP00000245907.4:p.Pro836Ser
ENST00000245907.10:c.2506C>T	ENSP00000245907.4:p.Pro836Ser
ENST00000602053.1:n.554C>T
NM_000064.3:c.2506C>T	NP_000055.2:p.Pro836Ser
NM_000064.4:c.2506C>T MANE Select	NP_000055.2:p.Pro836Ser