Canonical Allele Identifier: CA915941755

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 829842
• ClinVar RCV Id: RCV001029781
• dbSNP Id: rs1574681401

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227248493_227248494delinsAA , CM000664.2:g.227248493_227248494delinsAA	GRCh38
NC_000002.11:g.228113209_228113210delinsAA , CM000664.1:g.228113209_228113210delinsAA	GRCh37
NC_000002.10:g.227821453_227821454delinsAA	NCBI36
NG_011591.1:g.88929_88930delinsAA , LRG_230:g.88929_88930delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.519_520delinsAA (COL4A3) MANE Select	ENSP00000379823.3:p.Gly174Arg
ENST00000396578.7:c.519_520delinsAA (COL4A3)	ENSP00000379823.3:p.Gly174Arg
NM_000091.4:c.519_520delinsAA , LRG_230t1:c.519_520delinsAA (COL4A3)	NP_000082.2:p.Gly174Arg
NR_102371.1:n.1593-10320_1593-10319delinsTT (MFF-DT)
XM_005246276.2:c.519_520delinsAA (COL4A3)	XP_005246333.1:p.Gly174Arg
XM_005246277.2:c.519_520delinsAA (COL4A3)	XP_005246334.1:p.Gly174Arg
XM_005246280.2:c.519_520delinsAA (COL4A3)	XP_005246337.1:p.Gly174Arg
XM_006712245.2:c.519_520delinsAA (COL4A3)	XP_006712308.1:p.Gly174Arg
XM_011510555.1:c.519_520delinsAA (COL4A3)	XP_011508857.1:p.Gly174Arg
XR_241280.2:n.657_658delinsAA (COL4A3)
XM_005246277.3:c.519_520delinsAA (COL4A3)	XP_005246334.1:p.Gly174Arg
XM_005246280.3:c.519_520delinsAA (COL4A3)	XP_005246337.1:p.Gly174Arg
XM_006712245.3:c.519_520delinsAA (COL4A3)	XP_006712308.1:p.Gly174Arg
XM_017003295.1:c.519_520delinsAA (COL4A3)	XP_016858784.1:p.Gly174Arg
XR_001738601.1:n.657_658delinsAA (COL4A3)
XR_241280.3:n.657_658delinsAA (COL4A3)
NM_000091.5:c.519_520delinsAA (COL4A3) MANE Select	NP_000082.2:p.Gly174Arg