Canonical Allele Identifier: CA10487194

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108160584C>T , CM000685.2:g.108160584C>T	GRCh38
NC_000023.10:g.107403814C>T , CM000685.1:g.107403814C>T	GRCh37
NC_000023.9:g.107290470C>T	NCBI36
NG_012059.2:g.283891G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033641.4:c.4404G>A MANE Select	NP_378667.1:p.Thr1468=
ENST00000334504.12:c.4404G>A MANE Select	ENSP00000334733.7:p.Thr1468=
NM_001287758.1:c.4455G>A	NP_001274687.1:p.Thr1485=
NM_001287758.2:c.4455G>A	NP_001274687.1:p.Thr1485=
NM_001287759.1:c.4332G>A	NP_001274688.1:p.Thr1444=
NM_001287759.2:c.4332G>A	NP_001274688.1:p.Thr1444=
NM_001287760.1:c.4233G>A	NP_001274689.1:p.Thr1411=
NM_001287760.2:c.4233G>A	NP_001274689.1:p.Thr1411=
NM_001847.3:c.4407G>A	NP_001838.2:p.Thr1469=
NM_001847.4:c.4407G>A	NP_001838.2:p.Thr1469=
NM_033641.3:c.4404G>A	NP_378667.1:p.Thr1468=
ENST00000334504.11:c.4404G>A	ENSP00000334733.7:p.Thr1468=
ENST00000372216.8:c.4407G>A	ENSP00000361290.4:p.Thr1469=
ENST00000394872.6:c.4455G>A	ENSP00000378340.3:p.Thr1485=
ENST00000538570.5:c.4233G>A	ENSP00000445236.1:p.Thr1411=
ENST00000545689.2:c.4368G>A	ENSP00000443707.2:p.Thr1456=
ENST00000621266.4:c.4332G>A	ENSP00000482970.1:p.Thr1444=
XM_006724617.2:c.4458G>A	XP_006724680.1:p.Thr1486=
XM_006724617.3:c.4458G>A	XP_006724680.1:p.Thr1486=
XM_011530852.1:c.4386G>A	XP_011529154.1:p.Thr1462=
XM_011530852.2:c.4386G>A	XP_011529154.1:p.Thr1462=
XM_011530853.1:c.4374G>A	XP_011529155.1:p.Thr1458=
XM_011530853.3:c.4374G>A	XP_011529155.1:p.Thr1458=