Canonical Allele Identifier: CA1332862019

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309205T= , CM000664.2:g.227309205T=	GRCh38
NC_000002.11:g.228173921T= , CM000664.1:g.228173921T=	GRCh37
NC_000002.10:g.227882165T=	NCBI36
NG_011591.1:g.149641T= , LRG_230:g.149641T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1900T= (COL4A3)
ENST00000682257.1:n.37T= (COL4A3)
ENST00000683077.1:n.124T= (COL4A3)
ENST00000684413.1:n.2209T= (COL4A3)
ENST00000684724.1:n.63T= (COL4A3)
ENST00000396578.8:c.4642T= (COL4A3) MANE Select	ENSP00000379823.3:p.Cys1548=
ENST00000469504.2:c.435T= (COL4A3)	ENSP00000493493.1:p.Asp145=
ENST00000643388.1:c.328T= (COL4A3)	ENSP00000495177.1:p.Cys110=
ENST00000396578.7:c.4642T= (COL4A3)	ENSP00000379823.3:p.Cys1548=
ENST00000469504.1:n.150T= (COL4A3)
NM_000091.4:c.4642T= , LRG_230t1:c.4642T= (COL4A3)	NP_000082.2:p.Cys1548=
NR_102371.1:n.48-3550A= (MFF-DT)
XM_005246276.2:c.4642T= (COL4A3)	XP_005246333.1:p.Cys1548=
XM_005246277.2:c.4537T= (COL4A3)	XP_005246334.1:p.Cys1513=
XM_011510555.1:c.4642T= (COL4A3)	XP_011508857.1:p.Cys1548=
XM_011510556.1:c.3403T= (COL4A3)	XP_011508858.1:p.Cys1135=
XR_241280.2:n.4602T= (COL4A3)
XM_005246277.3:c.4537T= (COL4A3)	XP_005246334.1:p.Cys1513=
XM_011510556.2:c.3403T= (COL4A3)	XP_011508858.1:p.Cys1135=
XR_241280.3:n.4602T= (COL4A3)
NM_000091.5:c.4642T= (COL4A3) MANE Select	NP_000082.2:p.Cys1548=