Canonical Allele Identifier: CA518100851

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400434G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157204G>A , CM000685.2:g.108157204G>A	GRCh38
NC_000023.10:g.107400434G>A , CM000685.1:g.107400434G>A	GRCh37
NC_000023.9:g.107287090G>A	NCBI36
NG_012059.2:g.287271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4869C>T MANE Select	ENSP00000334733.7:p.Cys1623=
ENST00000334504.11:c.4869C>T	ENSP00000334733.7:p.Cys1623=
ENST00000372216.8:c.4872C>T	ENSP00000361290.4:p.Cys1624=
ENST00000394872.6:c.4920C>T	ENSP00000378340.3:p.Cys1640=
ENST00000538570.5:c.4698C>T	ENSP00000445236.1:p.Cys1566=
ENST00000545689.2:c.4833C>T	ENSP00000443707.2:p.Cys1611=
ENST00000621266.4:c.4797C>T	ENSP00000482970.1:p.Cys1599=
NM_001287758.1:c.4920C>T	NP_001274687.1:p.Cys1640=
NM_001287759.1:c.4797C>T	NP_001274688.1:p.Cys1599=
NM_001287760.1:c.4698C>T	NP_001274689.1:p.Cys1566=
NM_001847.3:c.4872C>T	NP_001838.2:p.Cys1624=
NM_033641.3:c.4869C>T	NP_378667.1:p.Cys1623=
XM_006724617.2:c.4923C>T	XP_006724680.1:p.Cys1641=
XM_011530852.1:c.4851C>T	XP_011529154.1:p.Cys1617=
XM_011530853.1:c.4839C>T	XP_011529155.1:p.Cys1613=
XM_006724617.3:c.4923C>T	XP_006724680.1:p.Cys1641=
XM_011530852.2:c.4851C>T	XP_011529154.1:p.Cys1617=
XM_011530853.3:c.4839C>T	XP_011529155.1:p.Cys1613=
NM_001847.4:c.4872C>T	NP_001838.2:p.Cys1624=
NM_033641.4:c.4869C>T MANE Select	NP_378667.1:p.Cys1623=
NM_001287758.2:c.4920C>T	NP_001274687.1:p.Cys1640=
NM_001287759.2:c.4797C>T	NP_001274688.1:p.Cys1599=
NM_001287760.2:c.4698C>T	NP_001274689.1:p.Cys1566=