Canonical Allele Identifier: CA2663431967

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227312009-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312009C>A , CM000664.2:g.227312009C>A	GRCh38
NC_000002.11:g.228176725C>A , CM000664.1:g.228176725C>A	GRCh37
NC_000002.10:g.227884969C>A	NCBI36
NG_011591.1:g.152445C>A , LRG_230:g.152445C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2410C>A (COL4A3)
ENST00000682257.1:n.374C>A (COL4A3)
ENST00000682970.1:n.450C>A (COL4A3)
ENST00000683077.1:n.2091C>A (COL4A3)
ENST00000684413.1:n.2719C>A (COL4A3)
ENST00000684724.1:n.573C>A (COL4A3)
ENST00000396578.8:c.*139C>A (COL4A3) MANE Select	ENSP00000379823.3:n.*139C>A
ENST00000396578.7:c.*139C>A (COL4A3)	ENSP00000379823.3:n.*139C>A
NM_000091.4:c.*139C>A , LRG_230t1:c.*139C>A (COL4A3)	NP_000082.2:n.*139C>A
NR_102371.1:n.48-6354G>T (MFF-DT)
XM_005246276.2:c.*65C>A (COL4A3)	XP_005246333.1:n.*65C>A
XM_005246277.2:c.*139C>A (COL4A3)	XP_005246334.1:n.*139C>A
XM_011510556.1:c.*139C>A (COL4A3)	XP_011508858.1:n.*139C>A
XR_241280.2:n.5112C>A (COL4A3)
XM_005246277.3:c.*139C>A (COL4A3)	XP_005246334.1:n.*139C>A
XM_011510556.2:c.*139C>A (COL4A3)	XP_011508858.1:n.*139C>A
XR_241280.3:n.5112C>A (COL4A3)
NM_000091.5:c.*139C>A (COL4A3) MANE Select	NP_000082.2:n.*139C>A