Canonical Allele Identifier: CA9129748
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs762738195
ExAC: 19:6714244 C / A
gnomAD v2: 19-6714244-C-A
gnomAD v3: 19-6714233-C-A
gnomAD v4: 19-6714233-C-A
MyVariant Identifiers: chr19:g.6714244C>A (hg19) chr19:g.6714233C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714233C>A , CM000681.2:g.6714233C>A GRCh38
NC_000019.9:g.6714244C>A , CM000681.1:g.6714244C>A GRCh37
NC_000019.8:g.6665244C>A NCBI36
NG_009557.1:g.11419G>T , LRG_27:g.11419G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.492G>T ENSP00000512083.1:p.Lys164Asn
ENST00000245907.11:c.615G>T MANE Select ENSP00000245907.4:p.Lys205Asn
ENST00000245907.10:c.615G>T ENSP00000245907.4:p.Lys205Asn
ENST00000595577.1:n.119G>T
NM_000064.3:c.615G>T NP_000055.2:p.Lys205Asn
NM_000064.4:c.615G>T MANE Select NP_000055.2:p.Lys205Asn
Search 100 bp 5'
Search 100 bp 3'