Canonical Allele Identifier: CA1332863192

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs2073767520
• gnomAD v4: 2-227312203-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312203C>T , CM000664.2:g.227312203C>T	GRCh38
NC_000002.11:g.228176919C>T , CM000664.1:g.228176919C>T	GRCh37
NC_000002.10:g.227885163C>T	NCBI36
NG_011591.1:g.152639C>T , LRG_230:g.152639C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2604C>T (COL4A3)
ENST00000682257.1:n.568C>T (COL4A3)
ENST00000682970.1:n.644C>T (COL4A3)
ENST00000683077.1:n.2285C>T (COL4A3)
ENST00000684413.1:n.2913C>T (COL4A3)
ENST00000684724.1:n.767C>T (COL4A3)
ENST00000396578.8:c.*333C>T (COL4A3) MANE Select	ENSP00000379823.3:n.*333C>T
ENST00000396578.7:c.*333C>T (COL4A3)	ENSP00000379823.3:n.*333C>T
NM_000091.4:c.*333C>T , LRG_230t1:c.*333C>T (COL4A3)	NP_000082.2:n.*333C>T
NR_102371.1:n.48-6548G>A (MFF-DT)
XM_005246276.2:c.*259C>T (COL4A3)	XP_005246333.1:n.*259C>T
XM_005246277.2:c.*333C>T (COL4A3)	XP_005246334.1:n.*333C>T
XM_011510556.1:c.*333C>T (COL4A3)	XP_011508858.1:n.*333C>T
XR_241280.2:n.5306C>T (COL4A3)
XM_005246277.3:c.*333C>T (COL4A3)	XP_005246334.1:n.*333C>T
XM_011510556.2:c.*333C>T (COL4A3)	XP_011508858.1:n.*333C>T
XR_241280.3:n.5306C>T (COL4A3)
NM_000091.5:c.*333C>T (COL4A3) MANE Select	NP_000082.2:n.*333C>T