Canonical Allele Identifier: CA2147303

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227297690G>T , CM000664.2:g.227297690G>T	GRCh38
NC_000002.11:g.228162406G>T , CM000664.1:g.228162406G>T	GRCh37
NC_000002.10:g.227870650G>T	NCBI36
NG_011591.1:g.138126G>T , LRG_230:g.138126G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.3582G>T (COL4A3) MANE Select	NP_000082.2:p.Arg1194Ser
ENST00000396578.8:c.3582G>T (COL4A3) MANE Select	ENSP00000379823.3:p.Arg1194Ser
NM_000091.4:c.3582G>T , LRG_230t1:c.3582G>T (COL4A3)	NP_000082.2:p.Arg1194Ser
NR_102371.1:n.243+7770C>A (MFF-DT)
ENST00000396578.7:c.3582G>T (COL4A3)	ENSP00000379823.3:p.Arg1194Ser
ENST00000468753.5:n.245G>T (COL4A3)
XM_005246276.2:c.3582G>T (COL4A3)	XP_005246333.1:p.Arg1194Ser
XM_005246277.2:c.3477G>T (COL4A3)	XP_005246334.1:p.Arg1159Ser
XM_005246277.3:c.3477G>T (COL4A3)	XP_005246334.1:p.Arg1159Ser
XM_006712245.2:c.*52G>T (COL4A3)	XP_006712308.1:n.*52G>T
XM_006712245.3:c.*52G>T (COL4A3)	XP_006712308.1:n.*52G>T
XM_011510555.1:c.3582G>T (COL4A3)	XP_011508857.1:p.Arg1194Ser
XM_011510556.1:c.2343G>T (COL4A3)	XP_011508858.1:p.Arg781Ser
XM_011510556.2:c.2343G>T (COL4A3)	XP_011508858.1:p.Arg781Ser
XR_001738601.1:n.4930G>T (COL4A3)
XR_241280.2:n.3720G>T (COL4A3)
XR_241280.3:n.3720G>T (COL4A3)