Canonical Allele Identifier: CA505193044
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs2145430941
gnomAD v4: 19-6713416-C-T
MyVariant Identifiers: chr19:g.6713427C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713416C>T , CM000681.2:g.6713416C>T GRCh38
NC_000019.9:g.6713427C>T , CM000681.1:g.6713427C>T GRCh37
NC_000019.8:g.6664427C>T NCBI36
NG_009557.1:g.12236G>A , LRG_27:g.12236G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.744G>A ENSP00000512083.1:p.Lys248=
ENST00000695692.1:n.191G>A
ENST00000245907.11:c.867G>A MANE Select ENSP00000245907.4:p.Lys289=
ENST00000245907.10:c.867G>A ENSP00000245907.4:p.Lys289=
ENST00000595577.1:n.371G>A
ENST00000597442.5:n.117G>A
NM_000064.3:c.867G>A NP_000055.2:p.Lys289=
NM_000064.4:c.867G>A MANE Select NP_000055.2:p.Lys289=
Search 100 bp 5'
Search 100 bp 3'