Canonical Allele Identifier: CA350862764
Community Standard Title: NM_000091.5(COL4A3):c.4054A>T (p.Lys1352Ter)
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227304045A>T , CM000664.2:g.227304045A>T GRCh38
NC_000002.11:g.228168761A>T , CM000664.1:g.228168761A>T GRCh37
NC_000002.10:g.227877005A>T NCBI36
NG_011591.1:g.144481A>T , LRG_230:g.144481A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000091.5:c.4054A>T (COL4A3) MANE Select NP_000082.2:p.Lys1352Ter
ENST00000396578.8:c.4054A>T (COL4A3) MANE Select ENSP00000379823.3:p.Lys1352Ter
NM_000091.4:c.4054A>T , LRG_230t1:c.4054A>T (COL4A3) NP_000082.2:p.Lys1352Ter
NR_102371.1:n.243+1415T>A (MFF-DT)
ENST00000396578.7:c.4054A>T (COL4A3) ENSP00000379823.3:p.Lys1352Ter
ENST00000469504.2:c.25A>T (COL4A3) ENSP00000493493.1:p.Lys9Ter
ENST00000471862.1:n.472A>T (COL4A3)
ENST00000471862.2:n.472A>T (COL4A3)
XM_005246276.2:c.4054A>T (COL4A3) XP_005246333.1:p.Lys1352Ter
XM_005246277.2:c.3949A>T (COL4A3) XP_005246334.1:p.Lys1317Ter
XM_005246277.3:c.3949A>T (COL4A3) XP_005246334.1:p.Lys1317Ter
XM_011510555.1:c.4054A>T (COL4A3) XP_011508857.1:p.Lys1352Ter
XM_011510556.1:c.2815A>T (COL4A3) XP_011508858.1:p.Lys939Ter
XM_011510556.2:c.2815A>T (COL4A3) XP_011508858.1:p.Lys939Ter
XR_241280.2:n.4192A>T (COL4A3)
XR_241280.3:n.4192A>T (COL4A3)