Canonical Allele Identifier: CA518100804

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400365T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157135T>G , CM000685.2:g.108157135T>G	GRCh38
NC_000023.10:g.107400365T>G , CM000685.1:g.107400365T>G	GRCh37
NC_000023.9:g.107287021T>G	NCBI36
NG_012059.2:g.287340A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4938A>C MANE Select	ENSP00000334733.7:p.Ala1646=
ENST00000334504.11:c.4938A>C	ENSP00000334733.7:p.Ala1646=
ENST00000372216.8:c.4941A>C	ENSP00000361290.4:p.Ala1647=
ENST00000394872.6:c.4989A>C	ENSP00000378340.3:p.Ala1663=
ENST00000538570.5:c.4767A>C	ENSP00000445236.1:p.Ala1589=
ENST00000545689.2:c.4902A>C	ENSP00000443707.2:p.Ala1634=
ENST00000621266.4:c.4866A>C	ENSP00000482970.1:p.Ala1622=
NM_001287758.1:c.4989A>C	NP_001274687.1:p.Ala1663=
NM_001287759.1:c.4866A>C	NP_001274688.1:p.Ala1622=
NM_001287760.1:c.4767A>C	NP_001274689.1:p.Ala1589=
NM_001847.3:c.4941A>C	NP_001838.2:p.Ala1647=
NM_033641.3:c.4938A>C	NP_378667.1:p.Ala1646=
XM_006724617.2:c.4992A>C	XP_006724680.1:p.Ala1664=
XM_011530852.1:c.4920A>C	XP_011529154.1:p.Ala1640=
XM_011530853.1:c.4908A>C	XP_011529155.1:p.Ala1636=
XM_006724617.3:c.4992A>C	XP_006724680.1:p.Ala1664=
XM_011530852.2:c.4920A>C	XP_011529154.1:p.Ala1640=
XM_011530853.3:c.4908A>C	XP_011529155.1:p.Ala1636=
NM_001847.4:c.4941A>C	NP_001838.2:p.Ala1647=
NM_033641.4:c.4938A>C MANE Select	NP_378667.1:p.Ala1646=
NM_001287758.2:c.4989A>C	NP_001274687.1:p.Ala1663=
NM_001287759.2:c.4866A>C	NP_001274688.1:p.Ala1622=
NM_001287760.2:c.4767A>C	NP_001274689.1:p.Ala1589=