Canonical Allele Identifier: CA2587872260
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6681902-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6681902C>A , CM000681.2:g.6681902C>A GRCh38
NC_000019.9:g.6681913C>A , CM000681.1:g.6681913C>A GRCh37
NC_000019.8:g.6632913C>A NCBI36
NG_009557.1:g.43750G>T , LRG_27:g.43750G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.2698+39G>T
ENST00000695653.1:c.2259+39G>T ENSP00000512084.1:n.2259+39G>T
ENST00000695654.1:c.3375+39G>T ENSP00000512085.1:n.3375+39G>T
ENST00000695689.1:c.321+39G>T ENSP00000512101.1:n.321+39G>T
ENST00000695690.1:n.580G>T
ENST00000695691.1:n.580G>T
ENST00000245907.11:c.4350+39G>T MANE Select ENSP00000245907.4:n.4350+39G>T
ENST00000245907.10:c.4350+39G>T ENSP00000245907.4:n.4350+39G>T
ENST00000596548.1:c.471+39G>T ENSP00000469744.1:n.471+39G>T
ENST00000599899.5:n.1309+39G>T
ENST00000601008.1:c.242-3944G>T ENSP00000471384.1:n.242-3944G>T
NM_000064.3:c.4350+39G>T NP_000055.2:n.4350+39G>T
NM_000064.4:c.4350+39G>T MANE Select NP_000055.2:n.4350+39G>T