Canonical Allele Identifier: CA518100696

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400299A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157069A>T , CM000685.2:g.108157069A>T	GRCh38
NC_000023.10:g.107400299A>T , CM000685.1:g.107400299A>T	GRCh37
NC_000023.9:g.107286955A>T	NCBI36
NG_012059.2:g.287406T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.5004T>A MANE Select	ENSP00000334733.7:p.Ser1668=
ENST00000334504.11:c.5004T>A	ENSP00000334733.7:p.Ser1668=
ENST00000372216.8:c.5007T>A	ENSP00000361290.4:p.Ser1669=
ENST00000394872.6:c.5055T>A	ENSP00000378340.3:p.Ser1685=
ENST00000538570.5:c.4833T>A	ENSP00000445236.1:p.Ser1611=
ENST00000545689.2:c.4968T>A	ENSP00000443707.2:p.Ser1656=
ENST00000621266.4:c.4932T>A	ENSP00000482970.1:p.Ser1644=
NM_001287758.1:c.5055T>A	NP_001274687.1:p.Ser1685=
NM_001287759.1:c.4932T>A	NP_001274688.1:p.Ser1644=
NM_001287760.1:c.4833T>A	NP_001274689.1:p.Ser1611=
NM_001847.3:c.5007T>A	NP_001838.2:p.Ser1669=
NM_033641.3:c.5004T>A	NP_378667.1:p.Ser1668=
XM_006724617.2:c.5058T>A	XP_006724680.1:p.Ser1686=
XM_011530852.1:c.4986T>A	XP_011529154.1:p.Ser1662=
XM_011530853.1:c.4974T>A	XP_011529155.1:p.Ser1658=
XM_006724617.3:c.5058T>A	XP_006724680.1:p.Ser1686=
XM_011530852.2:c.4986T>A	XP_011529154.1:p.Ser1662=
XM_011530853.3:c.4974T>A	XP_011529155.1:p.Ser1658=
NM_001847.4:c.5007T>A	NP_001838.2:p.Ser1669=
NM_033641.4:c.5004T>A MANE Select	NP_378667.1:p.Ser1668=
NM_001287758.2:c.5055T>A	NP_001274687.1:p.Ser1685=
NM_001287759.2:c.4932T>A	NP_001274688.1:p.Ser1644=
NM_001287760.2:c.4833T>A	NP_001274689.1:p.Ser1611=