Canonical Allele Identifier: CA1332863173

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs2073766225

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312165dup , CM000664.2:g.227312165dup	GRCh38
NC_000002.11:g.228176881dup , CM000664.1:g.228176881dup	GRCh37
NC_000002.10:g.227885125dup	NCBI36
NG_011591.1:g.152601dup , LRG_230:g.152601dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2566dup (COL4A3)
ENST00000682257.1:n.530dup (COL4A3)
ENST00000682970.1:n.606dup (COL4A3)
ENST00000683077.1:n.2247dup (COL4A3)
ENST00000684413.1:n.2875dup (COL4A3)
ENST00000684724.1:n.729dup (COL4A3)
ENST00000396578.8:c.*295dup (COL4A3) MANE Select	ENSP00000379823.3:n.*295dup
ENST00000396578.7:c.*295dup (COL4A3)	ENSP00000379823.3:n.*295dup
NM_000091.4:c.*295dup , LRG_230t1:c.*295dup (COL4A3)	NP_000082.2:n.*295dup
NR_102371.1:n.48-6510dup (MFF-DT)
XM_005246276.2:c.*221dup (COL4A3)	XP_005246333.1:n.*221dup
XM_005246277.2:c.*295dup (COL4A3)	XP_005246334.1:n.*295dup
XM_011510556.1:c.*295dup (COL4A3)	XP_011508858.1:n.*295dup
XR_241280.2:n.5268dup (COL4A3)
XM_005246277.3:c.*295dup (COL4A3)	XP_005246334.1:n.*295dup
XM_011510556.2:c.*295dup (COL4A3)	XP_011508858.1:n.*295dup
XR_241280.3:n.5268dup (COL4A3)
NM_000091.5:c.*295dup (COL4A3) MANE Select	NP_000082.2:n.*295dup