Canonical Allele Identifier: CA236362

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157002A>C , CM000685.2:g.108157002A>C	GRCh38
NC_000023.10:g.107400232A>C , CM000685.1:g.107400232A>C	GRCh37
NC_000023.9:g.107286888A>C	NCBI36
NG_012059.2:g.287473T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_033641.4:c.5071T>G MANE Select	NP_378667.1:p.Ter1691Glu
ENST00000334504.12:c.5071T>G MANE Select	ENSP00000334733.7:p.Ter1691Glu
NM_001287758.1:c.5122T>G	NP_001274687.1:p.Ter1708Glu
NM_001287758.2:c.5122T>G	NP_001274687.1:p.Ter1708Glu
NM_001287759.1:c.4999T>G	NP_001274688.1:p.Ter1667Glu
NM_001287759.2:c.4999T>G	NP_001274688.1:p.Ter1667Glu
NM_001287760.1:c.4900T>G	NP_001274689.1:p.Ter1634Glu
NM_001287760.2:c.4900T>G	NP_001274689.1:p.Ter1634Glu
NM_001847.3:c.5074T>G	NP_001838.2:p.Ter1692Glu
NM_001847.4:c.5074T>G	NP_001838.2:p.Ter1692Glu
NM_033641.3:c.5071T>G	NP_378667.1:p.Ter1691Glu
ENST00000334504.11:c.5071T>G	ENSP00000334733.7:p.Ter1691Glu
ENST00000372216.8:c.5074T>G	ENSP00000361290.4:p.Ter1692Glu
ENST00000394872.6:c.5122T>G	ENSP00000378340.3:p.Ter1708Glu
ENST00000538570.5:c.4900T>G	ENSP00000445236.1:p.Ter1634Glu
ENST00000545689.2:c.5035T>G	ENSP00000443707.2:p.Ter1679Glu
ENST00000621266.4:c.4999T>G	ENSP00000482970.1:p.Ter1667Glu
XM_006724617.2:c.5125T>G	XP_006724680.1:p.Ter1709Glu
XM_006724617.3:c.5125T>G	XP_006724680.1:p.Ter1709Glu
XM_011530852.1:c.5053T>G	XP_011529154.1:p.Ter1685Glu
XM_011530852.2:c.5053T>G	XP_011529154.1:p.Ter1685Glu
XM_011530853.1:c.5041T>G	XP_011529155.1:p.Ter1681Glu
XM_011530853.3:c.5041T>G	XP_011529155.1:p.Ter1681Glu