Canonical Allele Identifier: CA10487088

Gene: COL4A6

Linked Data

• dbSNP Id: rs769120116
• ExAC: X:107400385 C / T
• gnomAD v2: X-107400385-C-T
• gnomAD v4: X-108157155-C-T
• MyVariant Identifiers: chrX:g.107400385C>T (hg19) ; chrX:g.108157155C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4918G>A MANE Select	ENSP00000334733.7:p.Gly1640Ser
ENST00000334504.11:c.4918G>A	ENSP00000334733.7:p.Gly1640Ser
ENST00000372216.8:c.4921G>A	ENSP00000361290.4:p.Gly1641Ser
ENST00000394872.6:c.4969G>A	ENSP00000378340.3:p.Gly1657Ser
ENST00000538570.5:c.4747G>A	ENSP00000445236.1:p.Gly1583Ser
ENST00000545689.2:c.4882G>A	ENSP00000443707.2:p.Gly1628Ser
ENST00000621266.4:c.4846G>A	ENSP00000482970.1:p.Gly1616Ser
NM_001287758.1:c.4969G>A	NP_001274687.1:p.Gly1657Ser
NM_001287759.1:c.4846G>A	NP_001274688.1:p.Gly1616Ser
NM_001287760.1:c.4747G>A	NP_001274689.1:p.Gly1583Ser
NM_001847.3:c.4921G>A	NP_001838.2:p.Gly1641Ser
NM_033641.3:c.4918G>A	NP_378667.1:p.Gly1640Ser
XM_006724617.2:c.4972G>A	XP_006724680.1:p.Gly1658Ser
XM_011530852.1:c.4900G>A	XP_011529154.1:p.Gly1634Ser
XM_011530853.1:c.4888G>A	XP_011529155.1:p.Gly1630Ser
XM_006724617.3:c.4972G>A	XP_006724680.1:p.Gly1658Ser
XM_011530852.2:c.4900G>A	XP_011529154.1:p.Gly1634Ser
XM_011530853.3:c.4888G>A	XP_011529155.1:p.Gly1630Ser
NM_001847.4:c.4921G>A	NP_001838.2:p.Gly1641Ser
NM_033641.4:c.4918G>A MANE Select	NP_378667.1:p.Gly1640Ser
NM_001287758.2:c.4969G>A	NP_001274687.1:p.Gly1657Ser
NM_001287759.2:c.4846G>A	NP_001274688.1:p.Gly1616Ser
NM_001287760.2:c.4747G>A	NP_001274689.1:p.Gly1583Ser