Canonical Allele Identifier: CA2663415159

Gene: COL4A3

Linked Data

• gnomAD v4: 2-227164928-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164928T>C , CM000664.2:g.227164928T>C	GRCh38
NC_000002.11:g.228029644T>C , CM000664.1:g.228029644T>C	GRCh37
NC_000002.10:g.227737888T>C	NCBI36
NG_011591.1:g.5364T>C , LRG_230:g.5364T>C
NG_011592.1:g.4632A>G , LRG_231:g.4632A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.87+115T>C MANE Select	ENSP00000379823.3:n.87+115T>C
ENST00000396578.7:c.87+115T>C	ENSP00000379823.3:n.87+115T>C
NM_000091.4:c.87+115T>C , LRG_230t1:c.87+115T>C	NP_000082.2:n.87+115T>C
XM_005246276.2:c.87+115T>C	XP_005246333.1:n.87+115T>C
XM_005246277.2:c.87+115T>C	XP_005246334.1:n.87+115T>C
XM_005246280.2:c.87+115T>C	XP_005246337.1:n.87+115T>C
XM_006712245.2:c.87+115T>C	XP_006712308.1:n.87+115T>C
XM_011510555.1:c.87+115T>C	XP_011508857.1:n.87+115T>C
XR_241280.2:n.225+115T>C
XM_005246277.3:c.87+115T>C	XP_005246334.1:n.87+115T>C
XM_005246280.3:c.87+115T>C	XP_005246337.1:n.87+115T>C
XM_006712245.3:c.87+115T>C	XP_006712308.1:n.87+115T>C
XM_017003295.1:c.87+115T>C	XP_016858784.1:n.87+115T>C
XR_001738601.1:n.225+115T>C
XR_241280.3:n.225+115T>C
NM_000091.5:c.87+115T>C MANE Select	NP_000082.2:n.87+115T>C