Canonical Allele Identifier: CA350866733

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228176516C>A (hg19) ; chr2:g.227311800C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311800C>A , CM000664.2:g.227311800C>A	GRCh38
NC_000002.11:g.228176516C>A , CM000664.1:g.228176516C>A	GRCh37
NC_000002.10:g.227884760C>A	NCBI36
NG_011591.1:g.152236C>A , LRG_230:g.152236C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2201C>A (COL4A3)
ENST00000682257.1:n.165C>A (COL4A3)
ENST00000682970.1:n.241C>A (COL4A3)
ENST00000683077.1:n.1882C>A (COL4A3)
ENST00000684413.1:n.2510C>A (COL4A3)
ENST00000684724.1:n.364C>A (COL4A3)
ENST00000396578.8:c.4943C>A (COL4A3) MANE Select	ENSP00000379823.3:p.Ser1648Ter
ENST00000469504.2:c.736C>A (COL4A3)	ENSP00000493493.1:n.736C>A
ENST00000643388.1:c.456C>A (COL4A3)	ENSP00000495177.1:p.Ile152=
ENST00000396578.7:c.4943C>A (COL4A3)	ENSP00000379823.3:p.Ser1648Ter
ENST00000469504.1:n.451C>A (COL4A3)
NM_000091.4:c.4943C>A , LRG_230t1:c.4943C>A (COL4A3)	NP_000082.2:p.Ser1648Ter
NR_102371.1:n.48-6145G>T (MFF-DT)
XM_005246276.2:c.4770C>A (COL4A3)	XP_005246333.1:p.Ile1590=
XM_005246277.2:c.4838C>A (COL4A3)	XP_005246334.1:p.Ser1613Ter
XM_011510556.1:c.3704C>A (COL4A3)	XP_011508858.1:p.Ser1235Ter
XR_241280.2:n.4903C>A (COL4A3)
XM_005246277.3:c.4838C>A (COL4A3)	XP_005246334.1:p.Ser1613Ter
XM_011510556.2:c.3704C>A (COL4A3)	XP_011508858.1:p.Ser1235Ter
XR_241280.3:n.4903C>A (COL4A3)
NM_000091.5:c.4943C>A (COL4A3) MANE Select	NP_000082.2:p.Ser1648Ter