Canonical Allele Identifier: CA631722187

Gene: C3

Linked Data

• ClinVar Variation Id: 1659331
• ClinVar RCV Id: RCV002178434
• dbSNP Id: rs1273232456
• gnomAD v2: 19-6682054-G-A
• gnomAD v4: 19-6682043-G-A
• MyVariant Identifiers: chr19:g.6682054G>A (hg19) ; chr19:g.6682043G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682043G>A , CM000681.2:g.6682043G>A	GRCh38
NC_000019.9:g.6682054G>A , CM000681.1:g.6682054G>A	GRCh37
NC_000019.8:g.6633054G>A	NCBI36
NG_009557.1:g.43609C>T , LRG_27:g.43609C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2609-13C>T
ENST00000695653.1:c.2170-13C>T	ENSP00000512084.1:n.2170-13C>T
ENST00000695654.1:c.3286-13C>T	ENSP00000512085.1:n.3286-13C>T
ENST00000695689.1:c.232-13C>T	ENSP00000512101.1:n.232-13C>T
ENST00000695690.1:n.452-13C>T
ENST00000695691.1:n.452-13C>T
ENST00000245907.11:c.4261-13C>T MANE Select	ENSP00000245907.4:n.4261-13C>T
ENST00000245907.10:c.4261-13C>T	ENSP00000245907.4:n.4261-13C>T
ENST00000596548.1:c.382-13C>T	ENSP00000469744.1:n.382-13C>T
ENST00000599899.5:n.1220-13C>T
ENST00000601008.1:c.242-4085C>T	ENSP00000471384.1:n.242-4085C>T
NM_000064.3:c.4261-13C>T	NP_000055.2:n.4261-13C>T
NM_000064.4:c.4261-13C>T MANE Select	NP_000055.2:n.4261-13C>T