Canonical Allele Identifier: CA2663431969
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227312011C>T , CM000664.2:g.227312011C>T GRCh38
NC_000002.11:g.228176727C>T , CM000664.1:g.228176727C>T GRCh37
NC_000002.10:g.227884971C>T NCBI36
NG_011591.1:g.152447C>T , LRG_230:g.152447C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000471862.2:n.2412C>T (COL4A3)
ENST00000682257.1:n.376C>T (COL4A3)
ENST00000682970.1:n.452C>T (COL4A3)
ENST00000683077.1:n.2093C>T (COL4A3)
ENST00000684413.1:n.2721C>T (COL4A3)
ENST00000684724.1:n.575C>T (COL4A3)
ENST00000396578.8:c.*141C>T (COL4A3) MANE Select ENSP00000379823.3:n.*141C>T
ENST00000396578.7:c.*141C>T (COL4A3) ENSP00000379823.3:n.*141C>T
NM_000091.4:c.*141C>T , LRG_230t1:c.*141C>T (COL4A3) NP_000082.2:n.*141C>T
NR_102371.1:n.48-6356G>A (MFF-DT)
XM_005246276.2:c.*67C>T (COL4A3) XP_005246333.1:n.*67C>T
XM_005246277.2:c.*141C>T (COL4A3) XP_005246334.1:n.*141C>T
XM_011510556.1:c.*141C>T (COL4A3) XP_011508858.1:n.*141C>T
XR_241280.2:n.5114C>T (COL4A3)
XM_005246277.3:c.*141C>T (COL4A3) XP_005246334.1:n.*141C>T
XM_011510556.2:c.*141C>T (COL4A3) XP_011508858.1:n.*141C>T
XR_241280.3:n.5114C>T (COL4A3)
NM_000091.5:c.*141C>T (COL4A3) MANE Select NP_000082.2:n.*141C>T