Canonical Allele Identifier: CA413848908

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400489T>A (hg19) ; chrX:g.108157259T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157259T>A , CM000685.2:g.108157259T>A	GRCh38
NC_000023.10:g.107400489T>A , CM000685.1:g.107400489T>A	GRCh37
NC_000023.9:g.107287145T>A	NCBI36
NG_012059.2:g.287216A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4814A>T MANE Select	ENSP00000334733.7:p.His1605Leu
ENST00000334504.11:c.4814A>T	ENSP00000334733.7:p.His1605Leu
ENST00000372216.8:c.4817A>T	ENSP00000361290.4:p.His1606Leu
ENST00000394872.6:c.4865A>T	ENSP00000378340.3:p.His1622Leu
ENST00000538570.5:c.4643A>T	ENSP00000445236.1:p.His1548Leu
ENST00000545689.2:c.4778A>T	ENSP00000443707.2:p.His1593Leu
ENST00000621266.4:c.4742A>T	ENSP00000482970.1:p.His1581Leu
NM_001287758.1:c.4865A>T	NP_001274687.1:p.His1622Leu
NM_001287759.1:c.4742A>T	NP_001274688.1:p.His1581Leu
NM_001287760.1:c.4643A>T	NP_001274689.1:p.His1548Leu
NM_001847.3:c.4817A>T	NP_001838.2:p.His1606Leu
NM_033641.3:c.4814A>T	NP_378667.1:p.His1605Leu
XM_006724617.2:c.4868A>T	XP_006724680.1:p.His1623Leu
XM_011530852.1:c.4796A>T	XP_011529154.1:p.His1599Leu
XM_011530853.1:c.4784A>T	XP_011529155.1:p.His1595Leu
XM_006724617.3:c.4868A>T	XP_006724680.1:p.His1623Leu
XM_011530852.2:c.4796A>T	XP_011529154.1:p.His1599Leu
XM_011530853.3:c.4784A>T	XP_011529155.1:p.His1595Leu
NM_001847.4:c.4817A>T	NP_001838.2:p.His1606Leu
NM_033641.4:c.4814A>T MANE Select	NP_378667.1:p.His1605Leu
NM_001287758.2:c.4865A>T	NP_001274687.1:p.His1622Leu
NM_001287759.2:c.4742A>T	NP_001274688.1:p.His1581Leu
NM_001287760.2:c.4643A>T	NP_001274689.1:p.His1548Leu