Canonical Allele Identifier: CA413848475

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400414G>A (hg19) ; chrX:g.108157184G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157184G>A , CM000685.2:g.108157184G>A	GRCh38
NC_000023.10:g.107400414G>A , CM000685.1:g.107400414G>A	GRCh37
NC_000023.9:g.107287070G>A	NCBI36
NG_012059.2:g.287291C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4889C>T MANE Select	ENSP00000334733.7:p.Thr1630Ile
ENST00000334504.11:c.4889C>T	ENSP00000334733.7:p.Thr1630Ile
ENST00000372216.8:c.4892C>T	ENSP00000361290.4:p.Thr1631Ile
ENST00000394872.6:c.4940C>T	ENSP00000378340.3:p.Thr1647Ile
ENST00000538570.5:c.4718C>T	ENSP00000445236.1:p.Thr1573Ile
ENST00000545689.2:c.4853C>T	ENSP00000443707.2:p.Thr1618Ile
ENST00000621266.4:c.4817C>T	ENSP00000482970.1:p.Thr1606Ile
NM_001287758.1:c.4940C>T	NP_001274687.1:p.Thr1647Ile
NM_001287759.1:c.4817C>T	NP_001274688.1:p.Thr1606Ile
NM_001287760.1:c.4718C>T	NP_001274689.1:p.Thr1573Ile
NM_001847.3:c.4892C>T	NP_001838.2:p.Thr1631Ile
NM_033641.3:c.4889C>T	NP_378667.1:p.Thr1630Ile
XM_006724617.2:c.4943C>T	XP_006724680.1:p.Thr1648Ile
XM_011530852.1:c.4871C>T	XP_011529154.1:p.Thr1624Ile
XM_011530853.1:c.4859C>T	XP_011529155.1:p.Thr1620Ile
XM_006724617.3:c.4943C>T	XP_006724680.1:p.Thr1648Ile
XM_011530852.2:c.4871C>T	XP_011529154.1:p.Thr1624Ile
XM_011530853.3:c.4859C>T	XP_011529155.1:p.Thr1620Ile
NM_001847.4:c.4892C>T	NP_001838.2:p.Thr1631Ile
NM_033641.4:c.4889C>T MANE Select	NP_378667.1:p.Thr1630Ile
NM_001287758.2:c.4940C>T	NP_001274687.1:p.Thr1647Ile
NM_001287759.2:c.4817C>T	NP_001274688.1:p.Thr1606Ile
NM_001287760.2:c.4718C>T	NP_001274689.1:p.Thr1573Ile