Canonical Allele Identifier: CA413848885

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400486G>T (hg19) ; chrX:g.108157256G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157256G>T , CM000685.2:g.108157256G>T	GRCh38
NC_000023.10:g.107400486G>T , CM000685.1:g.107400486G>T	GRCh37
NC_000023.9:g.107287142G>T	NCBI36
NG_012059.2:g.287219C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4817C>A MANE Select	ENSP00000334733.7:p.Thr1606Asn
ENST00000334504.11:c.4817C>A	ENSP00000334733.7:p.Thr1606Asn
ENST00000372216.8:c.4820C>A	ENSP00000361290.4:p.Thr1607Asn
ENST00000394872.6:c.4868C>A	ENSP00000378340.3:p.Thr1623Asn
ENST00000538570.5:c.4646C>A	ENSP00000445236.1:p.Thr1549Asn
ENST00000545689.2:c.4781C>A	ENSP00000443707.2:p.Thr1594Asn
ENST00000621266.4:c.4745C>A	ENSP00000482970.1:p.Thr1582Asn
NM_001287758.1:c.4868C>A	NP_001274687.1:p.Thr1623Asn
NM_001287759.1:c.4745C>A	NP_001274688.1:p.Thr1582Asn
NM_001287760.1:c.4646C>A	NP_001274689.1:p.Thr1549Asn
NM_001847.3:c.4820C>A	NP_001838.2:p.Thr1607Asn
NM_033641.3:c.4817C>A	NP_378667.1:p.Thr1606Asn
XM_006724617.2:c.4871C>A	XP_006724680.1:p.Thr1624Asn
XM_011530852.1:c.4799C>A	XP_011529154.1:p.Thr1600Asn
XM_011530853.1:c.4787C>A	XP_011529155.1:p.Thr1596Asn
XM_006724617.3:c.4871C>A	XP_006724680.1:p.Thr1624Asn
XM_011530852.2:c.4799C>A	XP_011529154.1:p.Thr1600Asn
XM_011530853.3:c.4787C>A	XP_011529155.1:p.Thr1596Asn
NM_001847.4:c.4820C>A	NP_001838.2:p.Thr1607Asn
NM_033641.4:c.4817C>A MANE Select	NP_378667.1:p.Thr1606Asn
NM_001287758.2:c.4868C>A	NP_001274687.1:p.Thr1623Asn
NM_001287759.2:c.4745C>A	NP_001274688.1:p.Thr1582Asn
NM_001287760.2:c.4646C>A	NP_001274689.1:p.Thr1549Asn