Canonical Allele Identifier: CA2663432139

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227312183-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312183C>T , CM000664.2:g.227312183C>T	GRCh38
NC_000002.11:g.228176899C>T , CM000664.1:g.228176899C>T	GRCh37
NC_000002.10:g.227885143C>T	NCBI36
NG_011591.1:g.152619C>T , LRG_230:g.152619C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2584C>T (COL4A3)
ENST00000682257.1:n.548C>T (COL4A3)
ENST00000682970.1:n.624C>T (COL4A3)
ENST00000683077.1:n.2265C>T (COL4A3)
ENST00000684413.1:n.2893C>T (COL4A3)
ENST00000684724.1:n.747C>T (COL4A3)
ENST00000396578.8:c.*313C>T (COL4A3) MANE Select	ENSP00000379823.3:n.*313C>T
ENST00000396578.7:c.*313C>T (COL4A3)	ENSP00000379823.3:n.*313C>T
NM_000091.4:c.*313C>T , LRG_230t1:c.*313C>T (COL4A3)	NP_000082.2:n.*313C>T
NR_102371.1:n.48-6528G>A (MFF-DT)
XM_005246276.2:c.*239C>T (COL4A3)	XP_005246333.1:n.*239C>T
XM_005246277.2:c.*313C>T (COL4A3)	XP_005246334.1:n.*313C>T
XM_011510556.1:c.*313C>T (COL4A3)	XP_011508858.1:n.*313C>T
XR_241280.2:n.5286C>T (COL4A3)
XM_005246277.3:c.*313C>T (COL4A3)	XP_005246334.1:n.*313C>T
XM_011510556.2:c.*313C>T (COL4A3)	XP_011508858.1:n.*313C>T
XR_241280.3:n.5286C>T (COL4A3)
NM_000091.5:c.*313C>T (COL4A3) MANE Select	NP_000082.2:n.*313C>T