Canonical Allele Identifier: CA518100889

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400479A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157249A>C , CM000685.2:g.108157249A>C	GRCh38
NC_000023.10:g.107400479A>C , CM000685.1:g.107400479A>C	GRCh37
NC_000023.9:g.107287135A>C	NCBI36
NG_012059.2:g.287226T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4824T>G MANE Select	ENSP00000334733.7:p.Ala1608=
ENST00000334504.11:c.4824T>G	ENSP00000334733.7:p.Ala1608=
ENST00000372216.8:c.4827T>G	ENSP00000361290.4:p.Ala1609=
ENST00000394872.6:c.4875T>G	ENSP00000378340.3:p.Ala1625=
ENST00000538570.5:c.4653T>G	ENSP00000445236.1:p.Ala1551=
ENST00000545689.2:c.4788T>G	ENSP00000443707.2:p.Ala1596=
ENST00000621266.4:c.4752T>G	ENSP00000482970.1:p.Ala1584=
NM_001287758.1:c.4875T>G	NP_001274687.1:p.Ala1625=
NM_001287759.1:c.4752T>G	NP_001274688.1:p.Ala1584=
NM_001287760.1:c.4653T>G	NP_001274689.1:p.Ala1551=
NM_001847.3:c.4827T>G	NP_001838.2:p.Ala1609=
NM_033641.3:c.4824T>G	NP_378667.1:p.Ala1608=
XM_006724617.2:c.4878T>G	XP_006724680.1:p.Ala1626=
XM_011530852.1:c.4806T>G	XP_011529154.1:p.Ala1602=
XM_011530853.1:c.4794T>G	XP_011529155.1:p.Ala1598=
XM_006724617.3:c.4878T>G	XP_006724680.1:p.Ala1626=
XM_011530852.2:c.4806T>G	XP_011529154.1:p.Ala1602=
XM_011530853.3:c.4794T>G	XP_011529155.1:p.Ala1598=
NM_001847.4:c.4827T>G	NP_001838.2:p.Ala1609=
NM_033641.4:c.4824T>G MANE Select	NP_378667.1:p.Ala1608=
NM_001287758.2:c.4875T>G	NP_001274687.1:p.Ala1625=
NM_001287759.2:c.4752T>G	NP_001274688.1:p.Ala1584=
NM_001287760.2:c.4653T>G	NP_001274689.1:p.Ala1551=