Canonical Allele Identifier: CA350863786

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227251163T>A , CM000664.2:g.227251163T>A	GRCh38
NC_000002.11:g.228115879T>A , CM000664.1:g.228115879T>A	GRCh37
NC_000002.10:g.227824123T>A	NCBI36
NG_011591.1:g.91599T>A , LRG_230:g.91599T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.570T>A (COL4A3) MANE Select	NP_000082.2:p.Phe190Leu
ENST00000396578.8:c.570T>A (COL4A3) MANE Select	ENSP00000379823.3:p.Phe190Leu
NM_000091.4:c.570T>A , LRG_230t1:c.570T>A (COL4A3)	NP_000082.2:p.Phe190Leu
NR_102371.1:n.1592+8015A>T (MFF-DT)
ENST00000396578.7:c.570T>A (COL4A3)	ENSP00000379823.3:p.Phe190Leu
XM_005246276.2:c.570T>A (COL4A3)	XP_005246333.1:p.Phe190Leu
XM_005246277.2:c.570T>A (COL4A3)	XP_005246334.1:p.Phe190Leu
XM_005246277.3:c.570T>A (COL4A3)	XP_005246334.1:p.Phe190Leu
XM_005246280.2:c.570T>A (COL4A3)	XP_005246337.1:p.Phe190Leu
XM_005246280.3:c.570T>A (COL4A3)	XP_005246337.1:p.Phe190Leu
XM_006712245.2:c.570T>A (COL4A3)	XP_006712308.1:p.Phe190Leu
XM_006712245.3:c.570T>A (COL4A3)	XP_006712308.1:p.Phe190Leu
XM_011510555.1:c.570T>A (COL4A3)	XP_011508857.1:p.Phe190Leu
XM_017003295.1:c.570T>A (COL4A3)	XP_016858784.1:p.Phe190Leu
XR_001738601.1:n.708T>A (COL4A3)
XR_241280.2:n.708T>A (COL4A3)
XR_241280.3:n.708T>A (COL4A3)