Canonical Allele Identifier: CA2697550526

Gene: COL4A3

Linked Data

• ClinVar Variation Id: 2703267
• ClinVar RCV Id: RCV003579228

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164837dup , CM000664.2:g.227164837dup	GRCh38
NC_000002.11:g.228029553dup , CM000664.1:g.228029553dup	GRCh37
NC_000002.10:g.227737797dup	NCBI36
NG_011591.1:g.5273dup , LRG_230:g.5273dup
NG_011592.1:g.4727dup , LRG_231:g.4727dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.87+24dup MANE Select	ENSP00000379823.3:n.87+24dup
ENST00000396578.7:c.87+24dup	ENSP00000379823.3:n.87+24dup
NM_000091.4:c.87+24dup , LRG_230t1:c.87+24dup	NP_000082.2:n.87+24dup
XM_005246276.2:c.87+24dup	XP_005246333.1:n.87+24dup
XM_005246277.2:c.87+24dup	XP_005246334.1:n.87+24dup
XM_005246280.2:c.87+24dup	XP_005246337.1:n.87+24dup
XM_006712245.2:c.87+24dup	XP_006712308.1:n.87+24dup
XM_011510555.1:c.87+24dup	XP_011508857.1:n.87+24dup
XR_241280.2:n.225+24dup
XM_005246277.3:c.87+24dup	XP_005246334.1:n.87+24dup
XM_005246280.3:c.87+24dup	XP_005246337.1:n.87+24dup
XM_006712245.3:c.87+24dup	XP_006712308.1:n.87+24dup
XM_017003295.1:c.87+24dup	XP_016858784.1:n.87+24dup
XR_001738601.1:n.225+24dup
XR_241280.3:n.225+24dup
NM_000091.5:c.87+24dup MANE Select	NP_000082.2:n.87+24dup