Canonical Allele Identifier: CA351140203

Gene: COL4A4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227007488C>T , CM000664.2:g.227007488C>T	GRCh38
NC_000002.11:g.227872204C>T , CM000664.1:g.227872204C>T	GRCh37
NC_000002.10:g.227580448C>T	NCBI36
NG_011592.1:g.162072G>A , LRG_231:g.162072G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000092.5:c.4910G>A MANE Select	NP_000083.3:p.Arg1637Gln
ENST00000396625.5:c.4910G>A MANE Select	ENSP00000379866.3:p.Arg1637Gln
NM_000092.4:c.4910G>A , LRG_231t1:c.4910G>A	NP_000083.3:p.Arg1637Gln
ENST00000396625.3:c.4910G>A	ENSP00000379866.3:p.Arg1637Gln
ENST00000682098.1:c.512G>A	ENSP00000508331.1:p.Arg171Gln
XM_005246281.2:c.4910G>A	XP_005246338.1:p.Arg1637Gln
XM_005246281.3:c.4910G>A	XP_005246338.1:p.Arg1637Gln
XM_005246282.2:c.4355G>A	XP_005246339.1:p.Arg1452Gln
XM_005246282.3:c.4355G>A	XP_005246339.1:p.Arg1452Gln
XM_006712246.2:c.4721G>A	XP_006712309.1:p.Arg1574Gln
XM_006712246.3:c.4721G>A	XP_006712309.1:p.Arg1574Gln
XM_006712249.2:c.4809+530G>A	XP_006712312.1:n.4809+530G>A
XM_006712252.2:c.4216+14560G>A	XP_006712315.1:n.4216+14560G>A
XM_011510557.1:c.4829G>A	XP_011508859.1:p.Arg1610Gln
XM_011510557.2:c.4829G>A	XP_011508859.1:p.Arg1610Gln
XM_011510558.1:c.4802G>A	XP_011508860.1:p.Arg1601Gln
XM_011510558.2:c.4802G>A	XP_011508860.1:p.Arg1601Gln
XM_011510559.1:c.4809+530G>A	XP_011508861.1:n.4809+530G>A
XM_011510559.2:c.4809+530G>A	XP_011508861.1:n.4809+530G>A
XM_011510560.1:c.4809+530G>A	XP_011508862.1:n.4809+530G>A
XM_011510560.2:c.4809+530G>A	XP_011508862.1:n.4809+530G>A
XM_011510561.1:c.4809+530G>A	XP_011508863.1:n.4809+530G>A
XM_011510561.2:c.4809+530G>A	XP_011508863.1:n.4809+530G>A
XM_011510562.1:c.4809+530G>A	XP_011508864.1:n.4809+530G>A
XM_011510562.2:c.4809+530G>A	XP_011508864.1:n.4809+530G>A
XM_011510563.1:c.*672G>A	XP_011508865.1:n.*672G>A
XM_011510564.1:c.*672G>A	XP_011508866.1:n.*672G>A
XM_011510565.1:c.4216+14560G>A	XP_011508867.1:n.4216+14560G>A
XM_011510565.2:c.4216+14560G>A	XP_011508867.1:n.4216+14560G>A
XM_011510566.1:c.4216+14560G>A	XP_011508868.1:n.4216+14560G>A
XM_011510566.2:c.4216+14560G>A	XP_011508868.1:n.4216+14560G>A
XM_011510567.1:c.4216+14560G>A	XP_011508869.1:n.4216+14560G>A
XM_011510567.2:c.4216+14560G>A	XP_011508869.1:n.4216+14560G>A
XM_011510569.1:c.4216+14560G>A	XP_011508871.1:n.4216+14560G>A
XM_011510569.2:c.4216+14560G>A	XP_011508871.1:n.4216+14560G>A
XM_011510570.1:c.4216+14560G>A	XP_011508872.1:n.4216+14560G>A
XM_011510570.2:c.4216+14560G>A	XP_011508872.1:n.4216+14560G>A
XM_011510571.1:c.4216+14560G>A	XP_011508873.1:n.4216+14560G>A
XM_011510572.1:c.3236G>A	XP_011508874.1:p.Arg1079Gln
XM_011510572.3:c.3236G>A	XP_011508874.1:p.Arg1079Gln
XM_017003296.1:c.*359G>A	XP_016858785.1:n.*359G>A
XM_017003297.1:c.4793G>A	XP_016858786.1:p.Arg1598Gln
XM_017003298.1:c.4809+530G>A	XP_016858787.1:n.4809+530G>A
XM_017003300.1:c.4216+14560G>A	XP_016858789.1:n.4216+14560G>A
XR_001738602.1:n.5135+530G>A
XR_001738603.1:n.5135+530G>A
XR_001738604.1:n.4982G>A
XR_001738606.1:n.4542+14560G>A
XR_001738607.1:n.4542+14560G>A
XR_922837.1:n.5119+530G>A
XR_922837.2:n.5135+530G>A
XR_922838.1:n.5119+530G>A
XR_922839.1:n.4526+14560G>A
XR_922840.1:n.4526+14560G>A