Canonical Allele Identifier: CA1332863182

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs2073766864
• gnomAD v4: 2-227312186-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312186G>A , CM000664.2:g.227312186G>A	GRCh38
NC_000002.11:g.228176902G>A , CM000664.1:g.228176902G>A	GRCh37
NC_000002.10:g.227885146G>A	NCBI36
NG_011591.1:g.152622G>A , LRG_230:g.152622G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2587G>A (COL4A3)
ENST00000682257.1:n.551G>A (COL4A3)
ENST00000682970.1:n.627G>A (COL4A3)
ENST00000683077.1:n.2268G>A (COL4A3)
ENST00000684413.1:n.2896G>A (COL4A3)
ENST00000684724.1:n.750G>A (COL4A3)
ENST00000396578.8:c.*316G>A (COL4A3) MANE Select	ENSP00000379823.3:n.*316G>A
ENST00000396578.7:c.*316G>A (COL4A3)	ENSP00000379823.3:n.*316G>A
NM_000091.4:c.*316G>A , LRG_230t1:c.*316G>A (COL4A3)	NP_000082.2:n.*316G>A
NR_102371.1:n.48-6531C>T (MFF-DT)
XM_005246276.2:c.*242G>A (COL4A3)	XP_005246333.1:n.*242G>A
XM_005246277.2:c.*316G>A (COL4A3)	XP_005246334.1:n.*316G>A
XM_011510556.1:c.*316G>A (COL4A3)	XP_011508858.1:n.*316G>A
XR_241280.2:n.5289G>A (COL4A3)
XM_005246277.3:c.*316G>A (COL4A3)	XP_005246334.1:n.*316G>A
XM_011510556.2:c.*316G>A (COL4A3)	XP_011508858.1:n.*316G>A
XR_241280.3:n.5289G>A (COL4A3)
NM_000091.5:c.*316G>A (COL4A3) MANE Select	NP_000082.2:n.*316G>A