Canonical Allele Identifier: CA2663431942

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227311953-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311953C>A , CM000664.2:g.227311953C>A	GRCh38
NC_000002.11:g.228176669C>A , CM000664.1:g.228176669C>A	GRCh37
NC_000002.10:g.227884913C>A	NCBI36
NG_011591.1:g.152389C>A , LRG_230:g.152389C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2354C>A (COL4A3)
ENST00000682257.1:n.318C>A (COL4A3)
ENST00000682970.1:n.394C>A (COL4A3)
ENST00000683077.1:n.2035C>A (COL4A3)
ENST00000684413.1:n.2663C>A (COL4A3)
ENST00000684724.1:n.517C>A (COL4A3)
ENST00000396578.8:c.*83C>A (COL4A3) MANE Select	ENSP00000379823.3:n.*83C>A
ENST00000396578.7:c.*83C>A (COL4A3)	ENSP00000379823.3:n.*83C>A
NM_000091.4:c.*83C>A , LRG_230t1:c.*83C>A (COL4A3)	NP_000082.2:n.*83C>A
NR_102371.1:n.48-6298G>T (MFF-DT)
XM_005246276.2:c.*9C>A (COL4A3)	XP_005246333.1:n.*9C>A
XM_005246277.2:c.*83C>A (COL4A3)	XP_005246334.1:n.*83C>A
XM_011510556.1:c.*83C>A (COL4A3)	XP_011508858.1:n.*83C>A
XR_241280.2:n.5056C>A (COL4A3)
XM_005246277.3:c.*83C>A (COL4A3)	XP_005246334.1:n.*83C>A
XM_011510556.2:c.*83C>A (COL4A3)	XP_011508858.1:n.*83C>A
XR_241280.3:n.5056C>A (COL4A3)
NM_000091.5:c.*83C>A (COL4A3) MANE Select	NP_000082.2:n.*83C>A