Canonical Allele Identifier: CA350862264
Community Standard Title: NM_000091.5(COL4A3):c.3952A>T (p.Lys1318Ter)
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227303107A>T , CM000664.2:g.227303107A>T GRCh38
NC_000002.11:g.228167823A>T , CM000664.1:g.228167823A>T GRCh37
NC_000002.10:g.227876067A>T NCBI36
NG_011591.1:g.143543A>T , LRG_230:g.143543A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000091.5:c.3952A>T (COL4A3) MANE Select NP_000082.2:p.Lys1318Ter
ENST00000396578.8:c.3952A>T (COL4A3) MANE Select ENSP00000379823.3:p.Lys1318Ter
NM_000091.4:c.3952A>T , LRG_230t1:c.3952A>T (COL4A3) NP_000082.2:p.Lys1318Ter
NR_102371.1:n.243+2353T>A (MFF-DT)
ENST00000396578.7:c.3952A>T (COL4A3) ENSP00000379823.3:p.Lys1318Ter
ENST00000468753.5:n.615A>T (COL4A3)
ENST00000471862.1:n.370A>T (COL4A3)
ENST00000471862.2:n.370A>T (COL4A3)
XM_005246276.2:c.3952A>T (COL4A3) XP_005246333.1:p.Lys1318Ter
XM_005246277.2:c.3847A>T (COL4A3) XP_005246334.1:p.Lys1283Ter
XM_005246277.3:c.3847A>T (COL4A3) XP_005246334.1:p.Lys1283Ter
XM_011510555.1:c.3952A>T (COL4A3) XP_011508857.1:p.Lys1318Ter
XM_011510556.1:c.2713A>T (COL4A3) XP_011508858.1:p.Lys905Ter
XM_011510556.2:c.2713A>T (COL4A3) XP_011508858.1:p.Lys905Ter
XR_241280.2:n.4090A>T (COL4A3)
XR_241280.3:n.4090A>T (COL4A3)