Canonical Allele Identifier: CA539869525

Gene: COL4A3

Linked Data

• dbSNP Id: rs1232118486
• gnomAD v2: 2-228029405-G-A
• gnomAD v3: 2-227164689-G-A
• gnomAD v4: 2-227164689-G-A
• MyVariant Identifiers: chr2:g.228029405G>A (hg19) ; chr2:g.227164689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164689G>A , CM000664.2:g.227164689G>A	GRCh38
NC_000002.11:g.228029405G>A , CM000664.1:g.228029405G>A	GRCh37
NC_000002.10:g.227737649G>A	NCBI36
NG_011591.1:g.5125G>A , LRG_230:g.5125G>A
NG_011592.1:g.4871C>T , LRG_231:g.4871C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.-38G>A MANE Select	ENSP00000379823.3:n.-38G>A
ENST00000396578.7:c.-38G>A	ENSP00000379823.3:n.-38G>A
NM_000091.4:c.-38G>A , LRG_230t1:c.-38G>A	NP_000082.2:n.-38G>A
XM_005246276.2:c.-38G>A	XP_005246333.1:n.-38G>A
XM_005246277.2:c.-38G>A	XP_005246334.1:n.-38G>A
XM_005246280.2:c.-38G>A	XP_005246337.1:n.-38G>A
XM_006712245.2:c.-38G>A	XP_006712308.1:n.-38G>A
XM_011510555.1:c.-38G>A	XP_011508857.1:n.-38G>A
XR_241280.2:n.101G>A
XM_005246277.3:c.-38G>A	XP_005246334.1:n.-38G>A
XM_005246280.3:c.-38G>A	XP_005246337.1:n.-38G>A
XM_006712245.3:c.-38G>A	XP_006712308.1:n.-38G>A
XM_017003295.1:c.-38G>A	XP_016858784.1:n.-38G>A
XR_001738601.1:n.101G>A
XR_241280.3:n.101G>A
NM_000091.5:c.-38G>A MANE Select	NP_000082.2:n.-38G>A