Canonical Allele Identifier: CA350864000

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227305083G>C , CM000664.2:g.227305083G>C	GRCh38
NC_000002.11:g.228169799G>C , CM000664.1:g.228169799G>C	GRCh37
NC_000002.10:g.227878043G>C	NCBI36
NG_011591.1:g.145519G>C , LRG_230:g.145519G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.4252G>C (COL4A3) MANE Select	NP_000082.2:p.Gly1418Arg
ENST00000396578.8:c.4252G>C (COL4A3) MANE Select	ENSP00000379823.3:p.Gly1418Arg
NM_000091.4:c.4252G>C , LRG_230t1:c.4252G>C (COL4A3)	NP_000082.2:p.Gly1418Arg
NR_102371.1:n.243+377C>G (MFF-DT)
ENST00000396578.7:c.4252G>C (COL4A3)	ENSP00000379823.3:p.Gly1418Arg
ENST00000469504.2:c.223G>C (COL4A3)	ENSP00000493493.1:p.Gly75Arg
ENST00000471862.2:n.1510G>C (COL4A3)
ENST00000684413.1:n.719G>C (COL4A3)
XM_005246276.2:c.4252G>C (COL4A3)	XP_005246333.1:p.Gly1418Arg
XM_005246277.2:c.4147G>C (COL4A3)	XP_005246334.1:p.Gly1383Arg
XM_005246277.3:c.4147G>C (COL4A3)	XP_005246334.1:p.Gly1383Arg
XM_011510555.1:c.4252G>C (COL4A3)	XP_011508857.1:p.Gly1418Arg
XM_011510556.1:c.3013G>C (COL4A3)	XP_011508858.1:p.Gly1005Arg
XM_011510556.2:c.3013G>C (COL4A3)	XP_011508858.1:p.Gly1005Arg
XR_241280.2:n.4390G>C (COL4A3)
XR_241280.3:n.4390G>C (COL4A3)