Canonical Allele Identifier: CA2147656

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227310813T>G , CM000664.2:g.227310813T>G	GRCh38
NC_000002.11:g.228175529T>G , CM000664.1:g.228175529T>G	GRCh37
NC_000002.10:g.227883773T>G	NCBI36
NG_011591.1:g.151249T>G , LRG_230:g.151249T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.4793T>G (COL4A3) MANE Select	NP_000082.2:p.Leu1598Arg
ENST00000396578.8:c.4793T>G (COL4A3) MANE Select	ENSP00000379823.3:p.Leu1598Arg
NM_000091.4:c.4793T>G , LRG_230t1:c.4793T>G (COL4A3)	NP_000082.2:p.Leu1598Arg
NR_102371.1:n.48-5158A>C (MFF-DT)
ENST00000396578.7:c.4793T>G (COL4A3)	ENSP00000379823.3:p.Leu1598Arg
ENST00000469504.1:n.301T>G (COL4A3)
ENST00000469504.2:c.586T>G (COL4A3)	ENSP00000493493.1:n.586T>G
ENST00000471862.2:n.2051T>G (COL4A3)
ENST00000643388.1:c.442-973T>G (COL4A3)	ENSP00000495177.1:n.442-973T>G
ENST00000682257.1:n.151-973T>G (COL4A3)
ENST00000682970.1:n.91T>G (COL4A3)
ENST00000683077.1:n.1732T>G (COL4A3)
ENST00000684413.1:n.2360T>G (COL4A3)
ENST00000684724.1:n.214T>G (COL4A3)
XM_005246276.2:c.4756-973T>G (COL4A3)	XP_005246333.1:n.4756-973T>G
XM_005246277.2:c.4688T>G (COL4A3)	XP_005246334.1:p.Leu1563Arg
XM_005246277.3:c.4688T>G (COL4A3)	XP_005246334.1:p.Leu1563Arg
XM_011510555.1:c.4780T>G (COL4A3)	XP_011508857.1:p.Trp1594Gly
XM_011510556.1:c.3554T>G (COL4A3)	XP_011508858.1:p.Leu1185Arg
XM_011510556.2:c.3554T>G (COL4A3)	XP_011508858.1:p.Leu1185Arg
XR_241280.2:n.4753T>G (COL4A3)
XR_241280.3:n.4753T>G (COL4A3)