Canonical Allele Identifier: CA413848052

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400301A>C (hg19) ; chrX:g.108157071A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157071A>C , CM000685.2:g.108157071A>C	GRCh38
NC_000023.10:g.107400301A>C , CM000685.1:g.107400301A>C	GRCh37
NC_000023.9:g.107286957A>C	NCBI36
NG_012059.2:g.287404T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.5002T>G MANE Select	ENSP00000334733.7:p.Ser1668Ala
ENST00000334504.11:c.5002T>G	ENSP00000334733.7:p.Ser1668Ala
ENST00000372216.8:c.5005T>G	ENSP00000361290.4:p.Ser1669Ala
ENST00000394872.6:c.5053T>G	ENSP00000378340.3:p.Ser1685Ala
ENST00000538570.5:c.4831T>G	ENSP00000445236.1:p.Ser1611Ala
ENST00000545689.2:c.4966T>G	ENSP00000443707.2:p.Ser1656Ala
ENST00000621266.4:c.4930T>G	ENSP00000482970.1:p.Ser1644Ala
NM_001287758.1:c.5053T>G	NP_001274687.1:p.Ser1685Ala
NM_001287759.1:c.4930T>G	NP_001274688.1:p.Ser1644Ala
NM_001287760.1:c.4831T>G	NP_001274689.1:p.Ser1611Ala
NM_001847.3:c.5005T>G	NP_001838.2:p.Ser1669Ala
NM_033641.3:c.5002T>G	NP_378667.1:p.Ser1668Ala
XM_006724617.2:c.5056T>G	XP_006724680.1:p.Ser1686Ala
XM_011530852.1:c.4984T>G	XP_011529154.1:p.Ser1662Ala
XM_011530853.1:c.4972T>G	XP_011529155.1:p.Ser1658Ala
XM_006724617.3:c.5056T>G	XP_006724680.1:p.Ser1686Ala
XM_011530852.2:c.4984T>G	XP_011529154.1:p.Ser1662Ala
XM_011530853.3:c.4972T>G	XP_011529155.1:p.Ser1658Ala
NM_001847.4:c.5005T>G	NP_001838.2:p.Ser1669Ala
NM_033641.4:c.5002T>G MANE Select	NP_378667.1:p.Ser1668Ala
NM_001287758.2:c.5053T>G	NP_001274687.1:p.Ser1685Ala
NM_001287759.2:c.4930T>G	NP_001274688.1:p.Ser1644Ala
NM_001287760.2:c.4831T>G	NP_001274689.1:p.Ser1611Ala