Canonical Allele Identifier: CA517927189

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108161668A>G , CM000685.2:g.108161668A>G	GRCh38
NC_000023.10:g.107404898A>G , CM000685.1:g.107404898A>G	GRCh37
NC_000023.9:g.107291554A>G	NCBI36
NG_012059.2:g.282807T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4284T>C MANE Select	ENSP00000334733.7:p.Ala1428=
ENST00000334504.11:c.4284T>C	ENSP00000334733.7:p.Ala1428=
ENST00000372216.8:c.4287T>C	ENSP00000361290.4:p.Ala1429=
ENST00000394872.6:c.4335T>C	ENSP00000378340.3:p.Ala1445=
ENST00000487645.1:n.775T>C
ENST00000538570.5:c.4113T>C	ENSP00000445236.1:p.Ala1371=
ENST00000545689.2:c.4248T>C	ENSP00000443707.2:p.Ala1416=
ENST00000621266.4:c.4212T>C	ENSP00000482970.1:p.Ala1404=
NM_001287758.1:c.4335T>C	NP_001274687.1:p.Ala1445=
NM_001287759.1:c.4212T>C	NP_001274688.1:p.Ala1404=
NM_001287760.1:c.4113T>C	NP_001274689.1:p.Ala1371=
NM_001847.3:c.4287T>C	NP_001838.2:p.Ala1429=
NM_033641.3:c.4284T>C	NP_378667.1:p.Ala1428=
XM_006724617.2:c.4338T>C	XP_006724680.1:p.Ala1446=
XM_011530852.1:c.4266T>C	XP_011529154.1:p.Ala1422=
XM_011530853.1:c.4254T>C	XP_011529155.1:p.Ala1418=
XM_006724617.3:c.4338T>C	XP_006724680.1:p.Ala1446=
XM_011530852.2:c.4266T>C	XP_011529154.1:p.Ala1422=
XM_011530853.3:c.4254T>C	XP_011529155.1:p.Ala1418=
NM_001847.4:c.4287T>C	NP_001838.2:p.Ala1429=
NM_033641.4:c.4284T>C MANE Select	NP_378667.1:p.Ala1428=
NM_001287758.2:c.4335T>C	NP_001274687.1:p.Ala1445=
NM_001287759.2:c.4212T>C	NP_001274688.1:p.Ala1404=
NM_001287760.2:c.4113T>C	NP_001274689.1:p.Ala1371=