Canonical Allele Identifier: CA518100581

Gene: COL4A6

Linked Data

• gnomAD v4: X-108157015-A-G
• MyVariant Identifiers: chrX:g.107400245A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157015A>G , CM000685.2:g.108157015A>G	GRCh38
NC_000023.10:g.107400245A>G , CM000685.1:g.107400245A>G	GRCh37
NC_000023.9:g.107286901A>G	NCBI36
NG_012059.2:g.287460T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000334504.12:c.5058T>C MANE Select	ENSP00000334733.7:p.Cys1686=
ENST00000334504.11:c.5058T>C	ENSP00000334733.7:p.Cys1686=
ENST00000372216.8:c.5061T>C	ENSP00000361290.4:p.Cys1687=
ENST00000394872.6:c.5109T>C	ENSP00000378340.3:p.Cys1703=
ENST00000538570.5:c.4887T>C	ENSP00000445236.1:p.Cys1629=
ENST00000545689.2:c.5022T>C	ENSP00000443707.2:p.Cys1674=
ENST00000621266.4:c.4986T>C	ENSP00000482970.1:p.Cys1662=
NM_001287758.1:c.5109T>C	NP_001274687.1:p.Cys1703=
NM_001287759.1:c.4986T>C	NP_001274688.1:p.Cys1662=
NM_001287760.1:c.4887T>C	NP_001274689.1:p.Cys1629=
NM_001847.3:c.5061T>C	NP_001838.2:p.Cys1687=
NM_033641.3:c.5058T>C	NP_378667.1:p.Cys1686=
XM_006724617.2:c.5112T>C	XP_006724680.1:p.Cys1704=
XM_011530852.1:c.5040T>C	XP_011529154.1:p.Cys1680=
XM_011530853.1:c.5028T>C	XP_011529155.1:p.Cys1676=
XM_006724617.3:c.5112T>C	XP_006724680.1:p.Cys1704=
XM_011530852.2:c.5040T>C	XP_011529154.1:p.Cys1680=
XM_011530853.3:c.5028T>C	XP_011529155.1:p.Cys1676=
NM_001847.4:c.5061T>C	NP_001838.2:p.Cys1687=
NM_033641.4:c.5058T>C MANE Select	NP_378667.1:p.Cys1686=
NM_001287758.2:c.5109T>C	NP_001274687.1:p.Cys1703=
NM_001287759.2:c.4986T>C	NP_001274688.1:p.Cys1662=
NM_001287760.2:c.4887T>C	NP_001274689.1:p.Cys1629=