Canonical Allele Identifier: CA631722273

Gene: C3

Linked Data

• dbSNP Id: rs1206081698
• gnomAD v2: 19-6682248-G-A
• gnomAD v4: 19-6682237-G-A
• MyVariant Identifiers: chr19:g.6682248G>A (hg19) ; chr19:g.6682237G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682237G>A , CM000681.2:g.6682237G>A	GRCh38
NC_000019.9:g.6682248G>A , CM000681.1:g.6682248G>A	GRCh37
NC_000019.8:g.6633248G>A	NCBI36
NG_009557.1:g.43415C>T , LRG_27:g.43415C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2521-8C>T
ENST00000695653.1:c.2082-8C>T	ENSP00000512084.1:n.2082-8C>T
ENST00000695654.1:c.3198-8C>T	ENSP00000512085.1:n.3198-8C>T
ENST00000695689.1:c.144-8C>T	ENSP00000512101.1:n.144-8C>T
ENST00000695690.1:n.364-8C>T
ENST00000695691.1:n.364-8C>T
ENST00000245907.11:c.4173-8C>T MANE Select	ENSP00000245907.4:n.4173-8C>T
ENST00000245907.10:c.4173-8C>T	ENSP00000245907.4:n.4173-8C>T
ENST00000596548.1:c.294-8C>T	ENSP00000469744.1:n.294-8C>T
ENST00000599899.5:n.1124C>T
ENST00000601008.1:c.242-4279C>T	ENSP00000471384.1:n.242-4279C>T
NM_000064.3:c.4173-8C>T	NP_000055.2:n.4173-8C>T
NM_000064.4:c.4173-8C>T MANE Select	NP_000055.2:n.4173-8C>T