Canonical Allele Identifier: CA2147419

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227303904G>A , CM000664.2:g.227303904G>A	GRCh38
NC_000002.11:g.228168620G>A , CM000664.1:g.228168620G>A	GRCh37
NC_000002.10:g.227876864G>A	NCBI36
NG_011591.1:g.144340G>A , LRG_230:g.144340G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.4001G>A (COL4A3) MANE Select	NP_000082.2:p.Gly1334Glu
ENST00000396578.8:c.4001G>A (COL4A3) MANE Select	ENSP00000379823.3:p.Gly1334Glu
NM_000091.4:c.4001G>A , LRG_230t1:c.4001G>A (COL4A3)	NP_000082.2:p.Gly1334Glu
NR_102371.1:n.243+1556C>T (MFF-DT)
ENST00000396578.7:c.4001G>A (COL4A3)	ENSP00000379823.3:p.Gly1334Glu
ENST00000471862.1:n.419G>A (COL4A3)
ENST00000471862.2:n.419G>A (COL4A3)
XM_005246276.2:c.4001G>A (COL4A3)	XP_005246333.1:p.Gly1334Glu
XM_005246277.2:c.3896G>A (COL4A3)	XP_005246334.1:p.Gly1299Glu
XM_005246277.3:c.3896G>A (COL4A3)	XP_005246334.1:p.Gly1299Glu
XM_011510555.1:c.4001G>A (COL4A3)	XP_011508857.1:p.Gly1334Glu
XM_011510556.1:c.2762G>A (COL4A3)	XP_011508858.1:p.Gly921Glu
XM_011510556.2:c.2762G>A (COL4A3)	XP_011508858.1:p.Gly921Glu
XR_241280.2:n.4139G>A (COL4A3)
XR_241280.3:n.4139G>A (COL4A3)