Canonical Allele Identifier: CA518100840

Gene: COL4A6

Linked Data

• COSMIC: COSM4105717 ; COSM4105718 ; COSM4105719
• MyVariant Identifiers: chrX:g.107400416G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157186G>T , CM000685.2:g.108157186G>T	GRCh38
NC_000023.10:g.107400416G>T , CM000685.1:g.107400416G>T	GRCh37
NC_000023.9:g.107287072G>T	NCBI36
NG_012059.2:g.287289C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4887C>A MANE Select	ENSP00000334733.7:p.Ala1629=
ENST00000334504.11:c.4887C>A	ENSP00000334733.7:p.Ala1629=
ENST00000372216.8:c.4890C>A	ENSP00000361290.4:p.Ala1630=
ENST00000394872.6:c.4938C>A	ENSP00000378340.3:p.Ala1646=
ENST00000538570.5:c.4716C>A	ENSP00000445236.1:p.Ala1572=
ENST00000545689.2:c.4851C>A	ENSP00000443707.2:p.Ala1617=
ENST00000621266.4:c.4815C>A	ENSP00000482970.1:p.Ala1605=
NM_001287758.1:c.4938C>A	NP_001274687.1:p.Ala1646=
NM_001287759.1:c.4815C>A	NP_001274688.1:p.Ala1605=
NM_001287760.1:c.4716C>A	NP_001274689.1:p.Ala1572=
NM_001847.3:c.4890C>A	NP_001838.2:p.Ala1630=
NM_033641.3:c.4887C>A	NP_378667.1:p.Ala1629=
XM_006724617.2:c.4941C>A	XP_006724680.1:p.Ala1647=
XM_011530852.1:c.4869C>A	XP_011529154.1:p.Ala1623=
XM_011530853.1:c.4857C>A	XP_011529155.1:p.Ala1619=
XM_006724617.3:c.4941C>A	XP_006724680.1:p.Ala1647=
XM_011530852.2:c.4869C>A	XP_011529154.1:p.Ala1623=
XM_011530853.3:c.4857C>A	XP_011529155.1:p.Ala1619=
NM_001847.4:c.4890C>A	NP_001838.2:p.Ala1630=
NM_033641.4:c.4887C>A MANE Select	NP_378667.1:p.Ala1629=
NM_001287758.2:c.4938C>A	NP_001274687.1:p.Ala1646=
NM_001287759.2:c.4815C>A	NP_001274688.1:p.Ala1605=
NM_001287760.2:c.4716C>A	NP_001274689.1:p.Ala1572=