Canonical Allele Identifier: CA2663431994

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227312059-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312059A>G , CM000664.2:g.227312059A>G	GRCh38
NC_000002.11:g.228176775A>G , CM000664.1:g.228176775A>G	GRCh37
NC_000002.10:g.227885019A>G	NCBI36
NG_011591.1:g.152495A>G , LRG_230:g.152495A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2460A>G (COL4A3)
ENST00000682257.1:n.424A>G (COL4A3)
ENST00000682970.1:n.500A>G (COL4A3)
ENST00000683077.1:n.2141A>G (COL4A3)
ENST00000684413.1:n.2769A>G (COL4A3)
ENST00000684724.1:n.623A>G (COL4A3)
ENST00000396578.8:c.*189A>G (COL4A3) MANE Select	ENSP00000379823.3:n.*189A>G
ENST00000396578.7:c.*189A>G (COL4A3)	ENSP00000379823.3:n.*189A>G
NM_000091.4:c.*189A>G , LRG_230t1:c.*189A>G (COL4A3)	NP_000082.2:n.*189A>G
NR_102371.1:n.48-6404T>C (MFF-DT)
XM_005246276.2:c.*115A>G (COL4A3)	XP_005246333.1:n.*115A>G
XM_005246277.2:c.*189A>G (COL4A3)	XP_005246334.1:n.*189A>G
XM_011510556.1:c.*189A>G (COL4A3)	XP_011508858.1:n.*189A>G
XR_241280.2:n.5162A>G (COL4A3)
XM_005246277.3:c.*189A>G (COL4A3)	XP_005246334.1:n.*189A>G
XM_011510556.2:c.*189A>G (COL4A3)	XP_011508858.1:n.*189A>G
XR_241280.3:n.5162A>G (COL4A3)
NM_000091.5:c.*189A>G (COL4A3) MANE Select	NP_000082.2:n.*189A>G