Canonical Allele Identifier: CA2145888
Gene: COL4A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2801051
ClinVar RCV Id: RCV003673887
dbSNP Id: rs769170197
ExAC: 2:228029471 A / G
gnomAD v2: 2-228029471-A-G
gnomAD v4: 2-227164755-A-G
MyVariant Identifiers: chr2:g.228029471A>G (hg19) chr2:g.228029471_228029495delinsGGGTGCTCCTGCTGCCGCTCCTGCT (hg19) chr2:g.227164755A>G (hg38) chr2:g.227164755_227164779delinsGGGTGCTCCTGCTGCCGCTCCTGCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227164755A>G , CM000664.2:g.227164755A>G GRCh38
NC_000002.11:g.228029471A>G , CM000664.1:g.228029471A>G GRCh37
NC_000002.10:g.227737715A>G NCBI36
NG_011591.1:g.5191A>G , LRG_230:g.5191A>G
NG_011592.1:g.4805T>C , LRG_231:g.4805T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000396578.8:c.29A>G MANE Select ENSP00000379823.3:p.Gln10Arg
ENST00000396578.7:c.29A>G ENSP00000379823.3:p.Gln10Arg
NM_000091.4:c.29A>G , LRG_230t1:c.29A>G NP_000082.2:p.Gln10Arg
XM_005246276.2:c.29A>G XP_005246333.1:p.Gln10Arg
XM_005246277.2:c.29A>G XP_005246334.1:p.Gln10Arg
XM_005246280.2:c.29A>G XP_005246337.1:p.Gln10Arg
XM_006712245.2:c.29A>G XP_006712308.1:p.Gln10Arg
XM_011510555.1:c.29A>G XP_011508857.1:p.Gln10Arg
XR_241280.2:n.167A>G
XM_005246277.3:c.29A>G XP_005246334.1:p.Gln10Arg
XM_005246280.3:c.29A>G XP_005246337.1:p.Gln10Arg
XM_006712245.3:c.29A>G XP_006712308.1:p.Gln10Arg
XM_017003295.1:c.29A>G XP_016858784.1:p.Gln10Arg
XR_001738601.1:n.167A>G
XR_241280.3:n.167A>G
NM_000091.5:c.29A>G MANE Select NP_000082.2:p.Gln10Arg
Search 100 bp 5'
Search 100 bp 3'