Canonical Allele Identifier: CA2147611

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309241G>A , CM000664.2:g.227309241G>A	GRCh38
NC_000002.11:g.228173957G>A , CM000664.1:g.228173957G>A	GRCh37
NC_000002.10:g.227882201G>A	NCBI36
NG_011591.1:g.149677G>A , LRG_230:g.149677G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.4678G>A (COL4A3) MANE Select	NP_000082.2:p.Val1560Ile
ENST00000396578.8:c.4678G>A (COL4A3) MANE Select	ENSP00000379823.3:p.Val1560Ile
NM_000091.4:c.4678G>A , LRG_230t1:c.4678G>A (COL4A3)	NP_000082.2:p.Val1560Ile
NR_102371.1:n.48-3586C>T (MFF-DT)
ENST00000396578.7:c.4678G>A (COL4A3)	ENSP00000379823.3:p.Val1560Ile
ENST00000469504.1:n.186G>A (COL4A3)
ENST00000469504.2:c.471G>A (COL4A3)	ENSP00000493493.1:n.471G>A
ENST00000471862.2:n.1936G>A (COL4A3)
ENST00000643388.1:c.364G>A (COL4A3)	ENSP00000495177.1:p.Val122Ile
ENST00000682257.1:n.73G>A (COL4A3)
ENST00000683077.1:n.160G>A (COL4A3)
ENST00000684413.1:n.2245G>A (COL4A3)
ENST00000684724.1:n.99G>A (COL4A3)
XM_005246276.2:c.4678G>A (COL4A3)	XP_005246333.1:p.Val1560Ile
XM_005246277.2:c.4573G>A (COL4A3)	XP_005246334.1:p.Val1525Ile
XM_005246277.3:c.4573G>A (COL4A3)	XP_005246334.1:p.Val1525Ile
XM_011510555.1:c.4678G>A (COL4A3)	XP_011508857.1:p.Val1560Ile
XM_011510556.1:c.3439G>A (COL4A3)	XP_011508858.1:p.Val1147Ile
XM_011510556.2:c.3439G>A (COL4A3)	XP_011508858.1:p.Val1147Ile
XR_241280.2:n.4638G>A (COL4A3)
XR_241280.3:n.4638G>A (COL4A3)