Canonical Allele Identifier: CA413848360

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400385C>A (hg19) ; chrX:g.108157155C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157155C>A , CM000685.2:g.108157155C>A	GRCh38
NC_000023.10:g.107400385C>A , CM000685.1:g.107400385C>A	GRCh37
NC_000023.9:g.107287041C>A	NCBI36
NG_012059.2:g.287320G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4918G>T MANE Select	ENSP00000334733.7:p.Gly1640Cys
ENST00000334504.11:c.4918G>T	ENSP00000334733.7:p.Gly1640Cys
ENST00000372216.8:c.4921G>T	ENSP00000361290.4:p.Gly1641Cys
ENST00000394872.6:c.4969G>T	ENSP00000378340.3:p.Gly1657Cys
ENST00000538570.5:c.4747G>T	ENSP00000445236.1:p.Gly1583Cys
ENST00000545689.2:c.4882G>T	ENSP00000443707.2:p.Gly1628Cys
ENST00000621266.4:c.4846G>T	ENSP00000482970.1:p.Gly1616Cys
NM_001287758.1:c.4969G>T	NP_001274687.1:p.Gly1657Cys
NM_001287759.1:c.4846G>T	NP_001274688.1:p.Gly1616Cys
NM_001287760.1:c.4747G>T	NP_001274689.1:p.Gly1583Cys
NM_001847.3:c.4921G>T	NP_001838.2:p.Gly1641Cys
NM_033641.3:c.4918G>T	NP_378667.1:p.Gly1640Cys
XM_006724617.2:c.4972G>T	XP_006724680.1:p.Gly1658Cys
XM_011530852.1:c.4900G>T	XP_011529154.1:p.Gly1634Cys
XM_011530853.1:c.4888G>T	XP_011529155.1:p.Gly1630Cys
XM_006724617.3:c.4972G>T	XP_006724680.1:p.Gly1658Cys
XM_011530852.2:c.4900G>T	XP_011529154.1:p.Gly1634Cys
XM_011530853.3:c.4888G>T	XP_011529155.1:p.Gly1630Cys
NM_001847.4:c.4921G>T	NP_001838.2:p.Gly1641Cys
NM_033641.4:c.4918G>T MANE Select	NP_378667.1:p.Gly1640Cys
NM_001287758.2:c.4969G>T	NP_001274687.1:p.Gly1657Cys
NM_001287759.2:c.4846G>T	NP_001274688.1:p.Gly1616Cys
NM_001287760.2:c.4747G>T	NP_001274689.1:p.Gly1583Cys