Canonical Allele Identifier: CA350846737

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227277476G>A , CM000664.2:g.227277476G>A	GRCh38
NC_000002.11:g.228142192G>A , CM000664.1:g.228142192G>A	GRCh37
NC_000002.10:g.227850436G>A	NCBI36
NG_011591.1:g.117912G>A , LRG_230:g.117912G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.2048G>A (COL4A3) MANE Select	NP_000082.2:p.Gly683Glu
ENST00000396578.8:c.2048G>A (COL4A3) MANE Select	ENSP00000379823.3:p.Gly683Glu
NM_000091.4:c.2048G>A , LRG_230t1:c.2048G>A (COL4A3)	NP_000082.2:p.Gly683Glu
NR_102371.1:n.422+2007C>T (MFF-DT)
ENST00000396578.7:c.2048G>A (COL4A3)	ENSP00000379823.3:p.Gly683Glu
XM_005246276.2:c.2048G>A (COL4A3)	XP_005246333.1:p.Gly683Glu
XM_005246277.2:c.2020+999G>A (COL4A3)	XP_005246334.1:n.2020+999G>A
XM_005246277.3:c.2020+999G>A (COL4A3)	XP_005246334.1:n.2020+999G>A
XM_005246280.2:c.2048G>A (COL4A3)	XP_005246337.1:p.Gly683Glu
XM_005246280.3:c.2048G>A (COL4A3)	XP_005246337.1:p.Gly683Glu
XM_006712245.2:c.2048G>A (COL4A3)	XP_006712308.1:p.Gly683Glu
XM_006712245.3:c.2048G>A (COL4A3)	XP_006712308.1:p.Gly683Glu
XM_011510555.1:c.2048G>A (COL4A3)	XP_011508857.1:p.Gly683Glu
XM_011510556.1:c.809G>A (COL4A3)	XP_011508858.1:p.Gly270Glu
XM_011510556.2:c.809G>A (COL4A3)	XP_011508858.1:p.Gly270Glu
XM_017003295.1:c.2048G>A (COL4A3)	XP_016858784.1:p.Gly683Glu
XR_001738601.1:n.2186G>A (COL4A3)
XR_241280.2:n.2186G>A (COL4A3)
XR_241280.3:n.2186G>A (COL4A3)