Canonical Allele Identifier: CA431509513

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228176523G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311807G>A , CM000664.2:g.227311807G>A	GRCh38
NC_000002.11:g.228176523G>A , CM000664.1:g.228176523G>A	GRCh37
NC_000002.10:g.227884767G>A	NCBI36
NG_011591.1:g.152243G>A , LRG_230:g.152243G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2208G>A (COL4A3)
ENST00000682257.1:n.172G>A (COL4A3)
ENST00000682970.1:n.248G>A (COL4A3)
ENST00000683077.1:n.1889G>A (COL4A3)
ENST00000684413.1:n.2517G>A (COL4A3)
ENST00000684724.1:n.371G>A (COL4A3)
ENST00000396578.8:c.4950G>A (COL4A3) MANE Select	ENSP00000379823.3:p.Val1650=
ENST00000469504.2:c.743G>A (COL4A3)	ENSP00000493493.1:n.743G>A
ENST00000643388.1:c.463G>A (COL4A3)	ENSP00000495177.1:p.Glu155Lys
ENST00000396578.7:c.4950G>A (COL4A3)	ENSP00000379823.3:p.Val1650=
ENST00000469504.1:n.458G>A (COL4A3)
NM_000091.4:c.4950G>A , LRG_230t1:c.4950G>A (COL4A3)	NP_000082.2:p.Val1650=
NR_102371.1:n.48-6152C>T (MFF-DT)
XM_005246276.2:c.4777G>A (COL4A3)	XP_005246333.1:p.Glu1593Lys
XM_005246277.2:c.4845G>A (COL4A3)	XP_005246334.1:p.Val1615=
XM_011510556.1:c.3711G>A (COL4A3)	XP_011508858.1:p.Val1237=
XR_241280.2:n.4910G>A (COL4A3)
XM_005246277.3:c.4845G>A (COL4A3)	XP_005246334.1:p.Val1615=
XM_011510556.2:c.3711G>A (COL4A3)	XP_011508858.1:p.Val1237=
XR_241280.3:n.4910G>A (COL4A3)
NM_000091.5:c.4950G>A (COL4A3) MANE Select	NP_000082.2:p.Val1650=