Canonical Allele Identifier: CA2663432133

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227312180-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312180C>A , CM000664.2:g.227312180C>A	GRCh38
NC_000002.11:g.228176896C>A , CM000664.1:g.228176896C>A	GRCh37
NC_000002.10:g.227885140C>A	NCBI36
NG_011591.1:g.152616C>A , LRG_230:g.152616C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2581C>A (COL4A3)
ENST00000682257.1:n.545C>A (COL4A3)
ENST00000682970.1:n.621C>A (COL4A3)
ENST00000683077.1:n.2262C>A (COL4A3)
ENST00000684413.1:n.2890C>A (COL4A3)
ENST00000684724.1:n.744C>A (COL4A3)
ENST00000396578.8:c.*310C>A (COL4A3) MANE Select	ENSP00000379823.3:n.*310C>A
ENST00000396578.7:c.*310C>A (COL4A3)	ENSP00000379823.3:n.*310C>A
NM_000091.4:c.*310C>A , LRG_230t1:c.*310C>A (COL4A3)	NP_000082.2:n.*310C>A
NR_102371.1:n.48-6525G>T (MFF-DT)
XM_005246276.2:c.*236C>A (COL4A3)	XP_005246333.1:n.*236C>A
XM_005246277.2:c.*310C>A (COL4A3)	XP_005246334.1:n.*310C>A
XM_011510556.1:c.*310C>A (COL4A3)	XP_011508858.1:n.*310C>A
XR_241280.2:n.5283C>A (COL4A3)
XM_005246277.3:c.*310C>A (COL4A3)	XP_005246334.1:n.*310C>A
XM_011510556.2:c.*310C>A (COL4A3)	XP_011508858.1:n.*310C>A
XR_241280.3:n.5283C>A (COL4A3)
NM_000091.5:c.*310C>A (COL4A3) MANE Select	NP_000082.2:n.*310C>A