Canonical Allele Identifier: CA2147359
Community Standard Title: NM_000091.5(COL4A3):c.3825C>T (p.His1275=)
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227298755C>T , CM000664.2:g.227298755C>T GRCh38
NC_000002.11:g.228163471C>T , CM000664.1:g.228163471C>T GRCh37
NC_000002.10:g.227871715C>T NCBI36
NG_011591.1:g.139191C>T , LRG_230:g.139191C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000091.5:c.3825C>T (COL4A3) MANE Select NP_000082.2:p.His1275=
ENST00000396578.8:c.3825C>T (COL4A3) MANE Select ENSP00000379823.3:p.His1275=
NM_000091.4:c.3825C>T , LRG_230t1:c.3825C>T (COL4A3) NP_000082.2:p.His1275=
NR_102371.1:n.243+6705G>A (MFF-DT)
ENST00000396578.7:c.3825C>T (COL4A3) ENSP00000379823.3:p.His1275=
ENST00000468753.5:n.488C>T (COL4A3)
ENST00000471862.1:n.243C>T (COL4A3)
ENST00000471862.2:n.243C>T (COL4A3)
XM_005246276.2:c.3825C>T (COL4A3) XP_005246333.1:p.His1275=
XM_005246277.2:c.3720C>T (COL4A3) XP_005246334.1:p.His1240=
XM_005246277.3:c.3720C>T (COL4A3) XP_005246334.1:p.His1240=
XM_011510555.1:c.3825C>T (COL4A3) XP_011508857.1:p.His1275=
XM_011510556.1:c.2586C>T (COL4A3) XP_011508858.1:p.His862=
XM_011510556.2:c.2586C>T (COL4A3) XP_011508858.1:p.His862=
XR_241280.2:n.3963C>T (COL4A3)
XR_241280.3:n.3963C>T (COL4A3)