Canonical Allele Identifier: CA517930026

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108165446G>C , CM000685.2:g.108165446G>C	GRCh38
NC_000023.10:g.107408676G>C , CM000685.1:g.107408676G>C	GRCh37
NC_000023.9:g.107295332G>C	NCBI36
NG_012059.2:g.279029C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.3732C>G MANE Select	ENSP00000334733.7:p.Ala1244=
ENST00000334504.11:c.3732C>G	ENSP00000334733.7:p.Ala1244=
ENST00000372216.8:c.3735C>G	ENSP00000361290.4:p.Ala1245=
ENST00000394872.6:c.3783C>G	ENSP00000378340.3:p.Ala1261=
ENST00000538570.5:c.3660C>G	ENSP00000445236.1:p.Ala1220=
ENST00000545689.2:c.3732C>G	ENSP00000443707.2:p.Ala1244=
ENST00000621266.4:c.3660C>G	ENSP00000482970.1:p.Ala1220=
NM_001287758.1:c.3783C>G	NP_001274687.1:p.Ala1261=
NM_001287759.1:c.3660C>G	NP_001274688.1:p.Ala1220=
NM_001287760.1:c.3660C>G	NP_001274689.1:p.Ala1220=
NM_001847.3:c.3735C>G	NP_001838.2:p.Ala1245=
NM_033641.3:c.3732C>G	NP_378667.1:p.Ala1244=
XM_006724617.2:c.3786C>G	XP_006724680.1:p.Ala1262=
XM_011530852.1:c.3714C>G	XP_011529154.1:p.Ala1238=
XM_011530853.1:c.3702C>G	XP_011529155.1:p.Ala1234=
XM_006724617.3:c.3786C>G	XP_006724680.1:p.Ala1262=
XM_011530852.2:c.3714C>G	XP_011529154.1:p.Ala1238=
XM_011530853.3:c.3702C>G	XP_011529155.1:p.Ala1234=
NM_001847.4:c.3735C>G	NP_001838.2:p.Ala1245=
NM_033641.4:c.3732C>G MANE Select	NP_378667.1:p.Ala1244=
NM_001287758.2:c.3783C>G	NP_001274687.1:p.Ala1261=
NM_001287759.2:c.3660C>G	NP_001274688.1:p.Ala1220=
NM_001287760.2:c.3660C>G	NP_001274689.1:p.Ala1220=