Canonical Allele Identifier: CA2146880

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227279835C>T , CM000664.2:g.227279835C>T	GRCh38
NC_000002.11:g.228144551C>T , CM000664.1:g.228144551C>T	GRCh37
NC_000002.10:g.227852795C>T	NCBI36
NG_011591.1:g.120271C>T , LRG_230:g.120271C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.2168C>T (COL4A3) MANE Select	NP_000082.2:p.Pro723Leu
ENST00000396578.8:c.2168C>T (COL4A3) MANE Select	ENSP00000379823.3:p.Pro723Leu
NM_000091.4:c.2168C>T , LRG_230t1:c.2168C>T (COL4A3)	NP_000082.2:p.Pro723Leu
NR_102371.1:n.330-260G>A (MFF-DT)
ENST00000396578.7:c.2168C>T (COL4A3)	ENSP00000379823.3:p.Pro723Leu
XM_005246276.2:c.2168C>T (COL4A3)	XP_005246333.1:p.Pro723Leu
XM_005246277.2:c.2063C>T (COL4A3)	XP_005246334.1:p.Pro688Leu
XM_005246277.3:c.2063C>T (COL4A3)	XP_005246334.1:p.Pro688Leu
XM_005246280.2:c.2168C>T (COL4A3)	XP_005246337.1:p.Pro723Leu
XM_005246280.3:c.2168C>T (COL4A3)	XP_005246337.1:p.Pro723Leu
XM_006712245.2:c.2168C>T (COL4A3)	XP_006712308.1:p.Pro723Leu
XM_006712245.3:c.2168C>T (COL4A3)	XP_006712308.1:p.Pro723Leu
XM_011510555.1:c.2168C>T (COL4A3)	XP_011508857.1:p.Pro723Leu
XM_011510556.1:c.929C>T (COL4A3)	XP_011508858.1:p.Pro310Leu
XM_011510556.2:c.929C>T (COL4A3)	XP_011508858.1:p.Pro310Leu
XM_017003295.1:c.2168C>T (COL4A3)	XP_016858784.1:p.Pro723Leu
XR_001738601.1:n.2306C>T (COL4A3)
XR_241280.2:n.2306C>T (COL4A3)
XR_241280.3:n.2306C>T (COL4A3)