Canonical Allele Identifier: CA1332863121
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227312036T= , CM000664.2:g.227312036T= GRCh38
NC_000002.11:g.228176752T= , CM000664.1:g.228176752T= GRCh37
NC_000002.10:g.227884996T= NCBI36
NG_011591.1:g.152472T= , LRG_230:g.152472T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000471862.2:n.2437T= (COL4A3)
ENST00000682257.1:n.401T= (COL4A3)
ENST00000682970.1:n.477T= (COL4A3)
ENST00000683077.1:n.2118T= (COL4A3)
ENST00000684413.1:n.2746T= (COL4A3)
ENST00000684724.1:n.600T= (COL4A3)
ENST00000396578.8:c.*166T= (COL4A3) MANE Select ENSP00000379823.3:n.*166T=
ENST00000396578.7:c.*166T= (COL4A3) ENSP00000379823.3:n.*166T=
NM_000091.4:c.*166T= , LRG_230t1:c.*166T= (COL4A3) NP_000082.2:n.*166T=
NR_102371.1:n.48-6381A= (MFF-DT)
XM_005246276.2:c.*92T= (COL4A3) XP_005246333.1:n.*92T=
XM_005246277.2:c.*166T= (COL4A3) XP_005246334.1:n.*166T=
XM_011510556.1:c.*166T= (COL4A3) XP_011508858.1:n.*166T=
XR_241280.2:n.5139T= (COL4A3)
XM_005246277.3:c.*166T= (COL4A3) XP_005246334.1:n.*166T=
XM_011510556.2:c.*166T= (COL4A3) XP_011508858.1:n.*166T=
XR_241280.3:n.5139T= (COL4A3)
NM_000091.5:c.*166T= (COL4A3) MANE Select NP_000082.2:n.*166T=