Canonical Allele Identifier: CA518100681

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400290C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157060C>A , CM000685.2:g.108157060C>A	GRCh38
NC_000023.10:g.107400290C>A , CM000685.1:g.107400290C>A	GRCh37
NC_000023.9:g.107286946C>A	NCBI36
NG_012059.2:g.287415G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.5013G>T MANE Select	ENSP00000334733.7:p.Leu1671=
ENST00000334504.11:c.5013G>T	ENSP00000334733.7:p.Leu1671=
ENST00000372216.8:c.5016G>T	ENSP00000361290.4:p.Leu1672=
ENST00000394872.6:c.5064G>T	ENSP00000378340.3:p.Leu1688=
ENST00000538570.5:c.4842G>T	ENSP00000445236.1:p.Leu1614=
ENST00000545689.2:c.4977G>T	ENSP00000443707.2:p.Leu1659=
ENST00000621266.4:c.4941G>T	ENSP00000482970.1:p.Leu1647=
NM_001287758.1:c.5064G>T	NP_001274687.1:p.Leu1688=
NM_001287759.1:c.4941G>T	NP_001274688.1:p.Leu1647=
NM_001287760.1:c.4842G>T	NP_001274689.1:p.Leu1614=
NM_001847.3:c.5016G>T	NP_001838.2:p.Leu1672=
NM_033641.3:c.5013G>T	NP_378667.1:p.Leu1671=
XM_006724617.2:c.5067G>T	XP_006724680.1:p.Leu1689=
XM_011530852.1:c.4995G>T	XP_011529154.1:p.Leu1665=
XM_011530853.1:c.4983G>T	XP_011529155.1:p.Leu1661=
XM_006724617.3:c.5067G>T	XP_006724680.1:p.Leu1689=
XM_011530852.2:c.4995G>T	XP_011529154.1:p.Leu1665=
XM_011530853.3:c.4983G>T	XP_011529155.1:p.Leu1661=
NM_001847.4:c.5016G>T	NP_001838.2:p.Leu1672=
NM_033641.4:c.5013G>T MANE Select	NP_378667.1:p.Leu1671=
NM_001287758.2:c.5064G>T	NP_001274687.1:p.Leu1688=
NM_001287759.2:c.4941G>T	NP_001274688.1:p.Leu1647=
NM_001287760.2:c.4842G>T	NP_001274689.1:p.Leu1614=