Canonical Allele Identifier: CA413847935

Gene: COL4A6

Linked Data

• ClinVar Variation Id: 2811816
• ClinVar RCV Id: RCV003685099
• MyVariant Identifiers: chrX:g.107400261C>T (hg19) ; chrX:g.108157031C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157031C>T , CM000685.2:g.108157031C>T	GRCh38
NC_000023.10:g.107400261C>T , CM000685.1:g.107400261C>T	GRCh37
NC_000023.9:g.107286917C>T	NCBI36
NG_012059.2:g.287444G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.5042G>A MANE Select	ENSP00000334733.7:p.Ser1681Asn
ENST00000334504.11:c.5042G>A	ENSP00000334733.7:p.Ser1681Asn
ENST00000372216.8:c.5045G>A	ENSP00000361290.4:p.Ser1682Asn
ENST00000394872.6:c.5093G>A	ENSP00000378340.3:p.Ser1698Asn
ENST00000538570.5:c.4871G>A	ENSP00000445236.1:p.Ser1624Asn
ENST00000545689.2:c.5006G>A	ENSP00000443707.2:p.Ser1669Asn
ENST00000621266.4:c.4970G>A	ENSP00000482970.1:p.Ser1657Asn
NM_001287758.1:c.5093G>A	NP_001274687.1:p.Ser1698Asn
NM_001287759.1:c.4970G>A	NP_001274688.1:p.Ser1657Asn
NM_001287760.1:c.4871G>A	NP_001274689.1:p.Ser1624Asn
NM_001847.3:c.5045G>A	NP_001838.2:p.Ser1682Asn
NM_033641.3:c.5042G>A	NP_378667.1:p.Ser1681Asn
XM_006724617.2:c.5096G>A	XP_006724680.1:p.Ser1699Asn
XM_011530852.1:c.5024G>A	XP_011529154.1:p.Ser1675Asn
XM_011530853.1:c.5012G>A	XP_011529155.1:p.Ser1671Asn
XM_006724617.3:c.5096G>A	XP_006724680.1:p.Ser1699Asn
XM_011530852.2:c.5024G>A	XP_011529154.1:p.Ser1675Asn
XM_011530853.3:c.5012G>A	XP_011529155.1:p.Ser1671Asn
NM_001847.4:c.5045G>A	NP_001838.2:p.Ser1682Asn
NM_033641.4:c.5042G>A MANE Select	NP_378667.1:p.Ser1681Asn
NM_001287758.2:c.5093G>A	NP_001274687.1:p.Ser1698Asn
NM_001287759.2:c.4970G>A	NP_001274688.1:p.Ser1657Asn
NM_001287760.2:c.4871G>A	NP_001274689.1:p.Ser1624Asn