Canonical Allele Identifier: CA304775668

Gene: C3

Linked Data

• dbSNP Id: rs977350816
• gnomAD v3: 19-6686016-G-A
• gnomAD v4: 19-6686016-G-A
• MyVariant Identifiers: chr19:g.6686027G>A (hg19) ; chr19:g.6686016G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686016G>A , CM000681.2:g.6686016G>A	GRCh38
NC_000019.9:g.6686027G>A , CM000681.1:g.6686027G>A	GRCh37
NC_000019.8:g.6637027G>A	NCBI36
NG_009557.1:g.39636C>T , LRG_27:g.39636C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2158+108C>T
ENST00000695653.1:c.1719+108C>T	ENSP00000512084.1:n.1719+108C>T
ENST00000695654.1:c.2835+108C>T	ENSP00000512085.1:n.2835+108C>T
ENST00000245907.11:c.3810+108C>T MANE Select	ENSP00000245907.4:n.3810+108C>T
ENST00000245907.10:c.3810+108C>T	ENSP00000245907.4:n.3810+108C>T
ENST00000596238.1:n.253+108C>T
ENST00000601008.1:c.241+730C>T	ENSP00000471384.1:n.241+730C>T
NM_000064.3:c.3810+108C>T	NP_000055.2:n.3810+108C>T
NM_000064.4:c.3810+108C>T MANE Select	NP_000055.2:n.3810+108C>T