Canonical Allele Identifier: CA350855482

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227290764G>T , CM000664.2:g.227290764G>T	GRCh38
NC_000002.11:g.228155480G>T , CM000664.1:g.228155480G>T	GRCh37
NC_000002.10:g.227863724G>T	NCBI36
NG_011591.1:g.131200G>T , LRG_230:g.131200G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.3088G>T (COL4A3) MANE Select	NP_000082.2:p.Gly1030Ter
ENST00000396578.8:c.3088G>T (COL4A3) MANE Select	ENSP00000379823.3:p.Gly1030Ter
NM_000091.4:c.3088G>T , LRG_230t1:c.3088G>T (COL4A3)	NP_000082.2:p.Gly1030Ter
NR_102371.1:n.244-8975C>A (MFF-DT)
ENST00000304990.8:c.199G>T (COL4A3)	ENSP00000302781.8:p.Gly67Ter
ENST00000396578.7:c.3088G>T (COL4A3)	ENSP00000379823.3:p.Gly1030Ter
ENST00000487633.1:n.249G>T (COL4A3)
XM_005246276.2:c.3088G>T (COL4A3)	XP_005246333.1:p.Gly1030Ter
XM_005246277.2:c.2983G>T (COL4A3)	XP_005246334.1:p.Gly995Ter
XM_005246277.3:c.2983G>T (COL4A3)	XP_005246334.1:p.Gly995Ter
XM_005246280.2:c.3088G>T (COL4A3)	XP_005246337.1:p.Gly1030Ter
XM_005246280.3:c.3088G>T (COL4A3)	XP_005246337.1:p.Gly1030Ter
XM_006712245.2:c.3088G>T (COL4A3)	XP_006712308.1:p.Gly1030Ter
XM_006712245.3:c.3088G>T (COL4A3)	XP_006712308.1:p.Gly1030Ter
XM_011510555.1:c.3088G>T (COL4A3)	XP_011508857.1:p.Gly1030Ter
XM_011510556.1:c.1849G>T (COL4A3)	XP_011508858.1:p.Gly617Ter
XM_011510556.2:c.1849G>T (COL4A3)	XP_011508858.1:p.Gly617Ter
XM_017003295.1:c.3088G>T (COL4A3)	XP_016858784.1:p.Gly1030Ter
XR_001738601.1:n.3226G>T (COL4A3)
XR_241280.2:n.3226G>T (COL4A3)
XR_241280.3:n.3226G>T (COL4A3)