Canonical Allele Identifier: CA518100542

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400230C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157000C>T , CM000685.2:g.108157000C>T	GRCh38
NC_000023.10:g.107400230C>T , CM000685.1:g.107400230C>T	GRCh37
NC_000023.9:g.107286886C>T	NCBI36
NG_012059.2:g.287475G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.5073G>A MANE Select	ENSP00000334733.7:p.Ter1691=
ENST00000334504.11:c.5073G>A	ENSP00000334733.7:p.Ter1691=
ENST00000372216.8:c.5076G>A	ENSP00000361290.4:p.Ter1692=
ENST00000394872.6:c.5124G>A	ENSP00000378340.3:p.Ter1708=
ENST00000538570.5:c.4902G>A	ENSP00000445236.1:p.Ter1634=
ENST00000545689.2:c.5037G>A	ENSP00000443707.2:p.Ter1679=
ENST00000621266.4:c.5001G>A	ENSP00000482970.1:p.Ter1667=
NM_001287758.1:c.5124G>A	NP_001274687.1:p.Ter1708=
NM_001287759.1:c.5001G>A	NP_001274688.1:p.Ter1667=
NM_001287760.1:c.4902G>A	NP_001274689.1:p.Ter1634=
NM_001847.3:c.5076G>A	NP_001838.2:p.Ter1692=
NM_033641.3:c.5073G>A	NP_378667.1:p.Ter1691=
XM_006724617.2:c.5127G>A	XP_006724680.1:p.Ter1709=
XM_011530852.1:c.5055G>A	XP_011529154.1:p.Ter1685=
XM_011530853.1:c.5043G>A	XP_011529155.1:p.Ter1681=
XM_006724617.3:c.5127G>A	XP_006724680.1:p.Ter1709=
XM_011530852.2:c.5055G>A	XP_011529154.1:p.Ter1685=
XM_011530853.3:c.5043G>A	XP_011529155.1:p.Ter1681=
NM_001847.4:c.5076G>A	NP_001838.2:p.Ter1692=
NM_033641.4:c.5073G>A MANE Select	NP_378667.1:p.Ter1691=
NM_001287758.2:c.5124G>A	NP_001274687.1:p.Ter1708=
NM_001287759.2:c.5001G>A	NP_001274688.1:p.Ter1667=
NM_001287760.2:c.4902G>A	NP_001274689.1:p.Ter1634=