Canonical Allele Identifier: CA2450541979
Gene: COL4A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108157173C= , CM000685.2:g.108157173C= GRCh38
NC_000023.10:g.107400403C= , CM000685.1:g.107400403C= GRCh37
NC_000023.9:g.107287059C= NCBI36
NG_012059.2:g.287302G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000334504.12:c.4900G= MANE Select ENSP00000334733.7:p.Glu1634=
ENST00000334504.11:c.4900G= ENSP00000334733.7:p.Glu1634=
ENST00000372216.8:c.4903G= ENSP00000361290.4:p.Glu1635=
ENST00000394872.6:c.4951G= ENSP00000378340.3:p.Glu1651=
ENST00000538570.5:c.4729G= ENSP00000445236.1:p.Glu1577=
ENST00000545689.2:c.4864G= ENSP00000443707.2:p.Glu1622=
ENST00000621266.4:c.4828G= ENSP00000482970.1:p.Glu1610=
NM_001287758.1:c.4951G= NP_001274687.1:p.Glu1651=
NM_001287759.1:c.4828G= NP_001274688.1:p.Glu1610=
NM_001287760.1:c.4729G= NP_001274689.1:p.Glu1577=
NM_001847.3:c.4903G= NP_001838.2:p.Glu1635=
NM_033641.3:c.4900G= NP_378667.1:p.Glu1634=
XM_006724617.2:c.4954G= XP_006724680.1:p.Glu1652=
XM_011530852.1:c.4882G= XP_011529154.1:p.Glu1628=
XM_011530853.1:c.4870G= XP_011529155.1:p.Glu1624=
XM_006724617.3:c.4954G= XP_006724680.1:p.Glu1652=
XM_011530852.2:c.4882G= XP_011529154.1:p.Glu1628=
XM_011530853.3:c.4870G= XP_011529155.1:p.Glu1624=
NM_001847.4:c.4903G= NP_001838.2:p.Glu1635=
NM_033641.4:c.4900G= MANE Select NP_378667.1:p.Glu1634=
NM_001287758.2:c.4951G= NP_001274687.1:p.Glu1651=
NM_001287759.2:c.4828G= NP_001274688.1:p.Glu1610=
NM_001287760.2:c.4729G= NP_001274689.1:p.Glu1577=