Canonical Allele Identifier: CA351140115

Gene: COL4A4

Linked Data

• MyVariant Identifiers: chr2:g.227872164G>T (hg19) ; chr2:g.227007448G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227007448G>T , CM000664.2:g.227007448G>T	GRCh38
NC_000002.11:g.227872164G>T , CM000664.1:g.227872164G>T	GRCh37
NC_000002.10:g.227580408G>T	NCBI36
NG_011592.1:g.162112C>A , LRG_231:g.162112C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682098.1:c.552C>A	ENSP00000508331.1:p.Phe184Leu
ENST00000396625.5:c.4950C>A MANE Select	ENSP00000379866.3:p.Phe1650Leu
ENST00000396625.3:c.4950C>A	ENSP00000379866.3:p.Phe1650Leu
NM_000092.4:c.4950C>A , LRG_231t1:c.4950C>A	NP_000083.3:p.Phe1650Leu
XM_005246281.2:c.4950C>A	XP_005246338.1:p.Phe1650Leu
XM_005246282.2:c.4395C>A	XP_005246339.1:p.Phe1465Leu
XM_006712246.2:c.4761C>A	XP_006712309.1:p.Phe1587Leu
XM_006712249.2:c.4809+570C>A	XP_006712312.1:n.4809+570C>A
XM_006712252.2:c.4216+14600C>A	XP_006712315.1:n.4216+14600C>A
XM_011510557.1:c.4869C>A	XP_011508859.1:p.Phe1623Leu
XM_011510558.1:c.4842C>A	XP_011508860.1:p.Phe1614Leu
XM_011510559.1:c.4809+570C>A	XP_011508861.1:n.4809+570C>A
XM_011510560.1:c.4809+570C>A	XP_011508862.1:n.4809+570C>A
XM_011510561.1:c.4809+570C>A	XP_011508863.1:n.4809+570C>A
XM_011510562.1:c.4809+570C>A	XP_011508864.1:n.4809+570C>A
XM_011510565.1:c.4216+14600C>A	XP_011508867.1:n.4216+14600C>A
XM_011510566.1:c.4216+14600C>A	XP_011508868.1:n.4216+14600C>A
XM_011510567.1:c.4216+14600C>A	XP_011508869.1:n.4216+14600C>A
XM_011510569.1:c.4216+14600C>A	XP_011508871.1:n.4216+14600C>A
XM_011510570.1:c.4216+14600C>A	XP_011508872.1:n.4216+14600C>A
XM_011510571.1:c.4216+14600C>A	XP_011508873.1:n.4216+14600C>A
XM_011510572.1:c.3276C>A	XP_011508874.1:p.Phe1092Leu
XR_922837.1:n.5119+570C>A
XR_922838.1:n.5119+570C>A
XR_922839.1:n.4526+14600C>A
XR_922840.1:n.4526+14600C>A
XM_005246281.3:c.4950C>A	XP_005246338.1:p.Phe1650Leu
XM_005246282.3:c.4395C>A	XP_005246339.1:p.Phe1465Leu
XM_006712246.3:c.4761C>A	XP_006712309.1:p.Phe1587Leu
XM_011510557.2:c.4869C>A	XP_011508859.1:p.Phe1623Leu
XM_011510558.2:c.4842C>A	XP_011508860.1:p.Phe1614Leu
XM_011510559.2:c.4809+570C>A	XP_011508861.1:n.4809+570C>A
XM_011510560.2:c.4809+570C>A	XP_011508862.1:n.4809+570C>A
XM_011510561.2:c.4809+570C>A	XP_011508863.1:n.4809+570C>A
XM_011510562.2:c.4809+570C>A	XP_011508864.1:n.4809+570C>A
XM_011510565.2:c.4216+14600C>A	XP_011508867.1:n.4216+14600C>A
XM_011510566.2:c.4216+14600C>A	XP_011508868.1:n.4216+14600C>A
XM_011510567.2:c.4216+14600C>A	XP_011508869.1:n.4216+14600C>A
XM_011510569.2:c.4216+14600C>A	XP_011508871.1:n.4216+14600C>A
XM_011510570.2:c.4216+14600C>A	XP_011508872.1:n.4216+14600C>A
XM_011510572.3:c.3276C>A	XP_011508874.1:p.Phe1092Leu
XM_017003297.1:c.4833C>A	XP_016858786.1:p.Phe1611Leu
XM_017003298.1:c.4809+570C>A	XP_016858787.1:n.4809+570C>A
XM_017003300.1:c.4216+14600C>A	XP_016858789.1:n.4216+14600C>A
XR_001738602.1:n.5135+570C>A
XR_001738603.1:n.5135+570C>A
XR_001738604.1:n.5022C>A
XR_001738606.1:n.4542+14600C>A
XR_001738607.1:n.4542+14600C>A
XR_922837.2:n.5135+570C>A
NM_000092.5:c.4950C>A MANE Select	NP_000083.3:p.Phe1650Leu