Canonical Allele Identifier: CA10487255

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108163022T>C , CM000685.2:g.108163022T>C	GRCh38
NC_000023.10:g.107406252T>C , CM000685.1:g.107406252T>C	GRCh37
NC_000023.9:g.107292908T>C	NCBI36
NG_012059.2:g.281453A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4086A>G MANE Select	ENSP00000334733.7:p.Gln1362=
ENST00000334504.11:c.4086A>G	ENSP00000334733.7:p.Gln1362=
ENST00000372216.8:c.4089A>G	ENSP00000361290.4:p.Gln1363=
ENST00000394872.6:c.4137A>G	ENSP00000378340.3:p.Gln1379=
ENST00000487645.1:n.577A>G
ENST00000538570.5:c.3915A>G	ENSP00000445236.1:p.Gln1305=
ENST00000545689.2:c.4050A>G	ENSP00000443707.2:p.Gln1350=
ENST00000621266.4:c.4014A>G	ENSP00000482970.1:p.Gln1338=
NM_001287758.1:c.4137A>G	NP_001274687.1:p.Gln1379=
NM_001287759.1:c.4014A>G	NP_001274688.1:p.Gln1338=
NM_001287760.1:c.3915A>G	NP_001274689.1:p.Gln1305=
NM_001847.3:c.4089A>G	NP_001838.2:p.Gln1363=
NM_033641.3:c.4086A>G	NP_378667.1:p.Gln1362=
XM_006724617.2:c.4140A>G	XP_006724680.1:p.Gln1380=
XM_011530852.1:c.4068A>G	XP_011529154.1:p.Gln1356=
XM_011530853.1:c.4056A>G	XP_011529155.1:p.Gln1352=
XM_006724617.3:c.4140A>G	XP_006724680.1:p.Gln1380=
XM_011530852.2:c.4068A>G	XP_011529154.1:p.Gln1356=
XM_011530853.3:c.4056A>G	XP_011529155.1:p.Gln1352=
NM_001847.4:c.4089A>G	NP_001838.2:p.Gln1363=
NM_033641.4:c.4086A>G MANE Select	NP_378667.1:p.Gln1362=
NM_001287758.2:c.4137A>G	NP_001274687.1:p.Gln1379=
NM_001287759.2:c.4014A>G	NP_001274688.1:p.Gln1338=
NM_001287760.2:c.3915A>G	NP_001274689.1:p.Gln1305=