Canonical Allele Identifier: CA350865815
Community Standard Title: NM_000091.5(COL4A3):c.4738G>T (p.Gly1580Ter)
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227309301G>T , CM000664.2:g.227309301G>T GRCh38
NC_000002.11:g.228174017G>T , CM000664.1:g.228174017G>T GRCh37
NC_000002.10:g.227882261G>T NCBI36
NG_011591.1:g.149737G>T , LRG_230:g.149737G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000091.5:c.4738G>T (COL4A3) MANE Select NP_000082.2:p.Gly1580Ter
ENST00000396578.8:c.4738G>T (COL4A3) MANE Select ENSP00000379823.3:p.Gly1580Ter
NM_000091.4:c.4738G>T , LRG_230t1:c.4738G>T (COL4A3) NP_000082.2:p.Gly1580Ter
NR_102371.1:n.48-3646C>A (MFF-DT)
ENST00000396578.7:c.4738G>T (COL4A3) ENSP00000379823.3:p.Gly1580Ter
ENST00000469504.1:n.246G>T (COL4A3)
ENST00000469504.2:c.531G>T (COL4A3) ENSP00000493493.1:n.531G>T
ENST00000471862.2:n.1996G>T (COL4A3)
ENST00000643388.1:c.424G>T (COL4A3) ENSP00000495177.1:p.Gly142Ter
ENST00000682257.1:n.133G>T (COL4A3)
ENST00000682970.1:n.49G>T (COL4A3)
ENST00000683077.1:n.220G>T (COL4A3)
ENST00000684413.1:n.2305G>T (COL4A3)
ENST00000684724.1:n.159G>T (COL4A3)
XM_005246276.2:c.4738G>T (COL4A3) XP_005246333.1:p.Gly1580Ter
XM_005246277.2:c.4633G>T (COL4A3) XP_005246334.1:p.Gly1545Ter
XM_005246277.3:c.4633G>T (COL4A3) XP_005246334.1:p.Gly1545Ter
XM_011510555.1:c.4738G>T (COL4A3) XP_011508857.1:p.Gly1580Ter
XM_011510556.1:c.3499G>T (COL4A3) XP_011508858.1:p.Gly1167Ter
XM_011510556.2:c.3499G>T (COL4A3) XP_011508858.1:p.Gly1167Ter
XR_241280.2:n.4698G>T (COL4A3)
XR_241280.3:n.4698G>T (COL4A3)