Canonical Allele Identifier: CA350864511
Community Standard Title: NM_000091.5(COL4A3):c.4450G>T (p.Gly1484Ter)
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227307907G>T , CM000664.2:g.227307907G>T GRCh38
NC_000002.11:g.228172623G>T , CM000664.1:g.228172623G>T GRCh37
NC_000002.10:g.227880867G>T NCBI36
NG_011591.1:g.148343G>T , LRG_230:g.148343G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000091.5:c.4450G>T (COL4A3) MANE Select NP_000082.2:p.Gly1484Ter
ENST00000396578.8:c.4450G>T (COL4A3) MANE Select ENSP00000379823.3:p.Gly1484Ter
NM_000091.4:c.4450G>T , LRG_230t1:c.4450G>T (COL4A3) NP_000082.2:p.Gly1484Ter
NR_102371.1:n.48-2252C>A (MFF-DT)
ENST00000396578.7:c.4450G>T (COL4A3) ENSP00000379823.3:p.Gly1484Ter
ENST00000469504.1:n.136G>T (COL4A3)
ENST00000469504.2:c.421G>T (COL4A3) ENSP00000493493.1:p.Gly141Ter
ENST00000471862.2:n.1708G>T (COL4A3)
ENST00000643388.1:c.136G>T (COL4A3) ENSP00000495177.1:p.Gly46Ter
ENST00000684413.1:n.911G>T (COL4A3)
XM_005246276.2:c.4450G>T (COL4A3) XP_005246333.1:p.Gly1484Ter
XM_005246277.2:c.4345G>T (COL4A3) XP_005246334.1:p.Gly1449Ter
XM_005246277.3:c.4345G>T (COL4A3) XP_005246334.1:p.Gly1449Ter
XM_011510555.1:c.4450G>T (COL4A3) XP_011508857.1:p.Gly1484Ter
XM_011510556.1:c.3211G>T (COL4A3) XP_011508858.1:p.Gly1071Ter
XM_011510556.2:c.3211G>T (COL4A3) XP_011508858.1:p.Gly1071Ter
XR_241280.2:n.4588G>T (COL4A3)
XR_241280.3:n.4588G>T (COL4A3)