Canonical Allele Identifier: CA350864769
Community Standard Title: NM_000091.5(COL4A3):c.646G>T (p.Gly216Cys)
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227253296G>T , CM000664.2:g.227253296G>T GRCh38
NC_000002.11:g.228118012G>T , CM000664.1:g.228118012G>T GRCh37
NC_000002.10:g.227826256G>T NCBI36
NG_011591.1:g.93732G>T , LRG_230:g.93732G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000091.5:c.646G>T (COL4A3) MANE Select NP_000082.2:p.Gly216Cys
ENST00000396578.8:c.646G>T (COL4A3) MANE Select ENSP00000379823.3:p.Gly216Cys
NM_000091.4:c.646G>T , LRG_230t1:c.646G>T (COL4A3) NP_000082.2:p.Gly216Cys
NR_102371.1:n.1592+5882C>A (MFF-DT)
ENST00000396578.7:c.646G>T (COL4A3) ENSP00000379823.3:p.Gly216Cys
XM_005246276.2:c.646G>T (COL4A3) XP_005246333.1:p.Gly216Cys
XM_005246277.2:c.646G>T (COL4A3) XP_005246334.1:p.Gly216Cys
XM_005246277.3:c.646G>T (COL4A3) XP_005246334.1:p.Gly216Cys
XM_005246280.2:c.646G>T (COL4A3) XP_005246337.1:p.Gly216Cys
XM_005246280.3:c.646G>T (COL4A3) XP_005246337.1:p.Gly216Cys
XM_006712245.2:c.646G>T (COL4A3) XP_006712308.1:p.Gly216Cys
XM_006712245.3:c.646G>T (COL4A3) XP_006712308.1:p.Gly216Cys
XM_011510555.1:c.646G>T (COL4A3) XP_011508857.1:p.Gly216Cys
XM_017003295.1:c.646G>T (COL4A3) XP_016858784.1:p.Gly216Cys
XR_001738601.1:n.784G>T (COL4A3)
XR_241280.2:n.784G>T (COL4A3)
XR_241280.3:n.784G>T (COL4A3)