Canonical Allele Identifier: CA350858648

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227294571G>T , CM000664.2:g.227294571G>T	GRCh38
NC_000002.11:g.228159287G>T , CM000664.1:g.228159287G>T	GRCh37
NC_000002.10:g.227867531G>T	NCBI36
NG_011591.1:g.135007G>T , LRG_230:g.135007G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.3418+1G>T (COL4A3) MANE Select	NP_000082.2:n.3418+1G>T
ENST00000396578.8:c.3418+1G>T (COL4A3) MANE Select	ENSP00000379823.3:n.3418+1G>T
NM_000091.4:c.3418+1G>T , LRG_230t1:c.3418+1G>T (COL4A3)	NP_000082.2:n.3418+1G>T
NR_102371.1:n.243+10889C>A (MFF-DT)
ENST00000396578.7:c.3418+1G>T (COL4A3)	ENSP00000379823.3:n.3418+1G>T
XM_005246276.2:c.3418+1G>T (COL4A3)	XP_005246333.1:n.3418+1G>T
XM_005246277.2:c.3313+1G>T (COL4A3)	XP_005246334.1:n.3313+1G>T
XM_005246277.3:c.3313+1G>T (COL4A3)	XP_005246334.1:n.3313+1G>T
XM_006712245.2:c.3418+1G>T (COL4A3)	XP_006712308.1:n.3418+1G>T
XM_006712245.3:c.3418+1G>T (COL4A3)	XP_006712308.1:n.3418+1G>T
XM_011510555.1:c.3418+1G>T (COL4A3)	XP_011508857.1:n.3418+1G>T
XM_011510556.1:c.2179+1G>T (COL4A3)	XP_011508858.1:n.2179+1G>T
XM_011510556.2:c.2179+1G>T (COL4A3)	XP_011508858.1:n.2179+1G>T
XR_001738601.1:n.3556+1G>T (COL4A3)
XR_241280.2:n.3556+1G>T (COL4A3)
XR_241280.3:n.3556+1G>T (COL4A3)