Canonical Allele Identifier: CA413856045

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108170658G>T , CM000685.2:g.108170658G>T	GRCh38
NC_000023.10:g.107413888G>T , CM000685.1:g.107413888G>T	GRCh37
NC_000023.9:g.107300544G>T	NCBI36
NG_012059.2:g.273817C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.3444C>A MANE Select	ENSP00000334733.7:p.His1148Gln
ENST00000334504.11:c.3444C>A	ENSP00000334733.7:p.His1148Gln
ENST00000372216.8:c.3447C>A	ENSP00000361290.4:p.His1149Gln
ENST00000394872.6:c.3495C>A	ENSP00000378340.3:p.His1165Gln
ENST00000538570.5:c.3444C>A	ENSP00000445236.1:p.His1148Gln
ENST00000545689.2:c.3444C>A	ENSP00000443707.2:p.His1148Gln
ENST00000621266.4:c.3444C>A	ENSP00000482970.1:p.His1148Gln
NM_001287758.1:c.3495C>A	NP_001274687.1:p.His1165Gln
NM_001287759.1:c.3444C>A	NP_001274688.1:p.His1148Gln
NM_001287760.1:c.3444C>A	NP_001274689.1:p.His1148Gln
NM_001847.3:c.3447C>A	NP_001838.2:p.His1149Gln
NM_033641.3:c.3444C>A	NP_378667.1:p.His1148Gln
XM_006724617.2:c.3498C>A	XP_006724680.1:p.His1166Gln
XM_011530852.1:c.3498C>A	XP_011529154.1:p.His1166Gln
XM_011530853.1:c.3414C>A	XP_011529155.1:p.His1138Gln
XM_011530854.1:c.3498C>A	XP_011529156.1:p.His1166Gln
XM_006724617.3:c.3498C>A	XP_006724680.1:p.His1166Gln
XM_011530852.2:c.3498C>A	XP_011529154.1:p.His1166Gln
XM_011530853.3:c.3414C>A	XP_011529155.1:p.His1138Gln
XM_011530854.2:c.3498C>A	XP_011529156.1:p.His1166Gln
NM_001847.4:c.3447C>A	NP_001838.2:p.His1149Gln
NM_033641.4:c.3444C>A MANE Select	NP_378667.1:p.His1148Gln
NM_001287758.2:c.3495C>A	NP_001274687.1:p.His1165Gln
NM_001287759.2:c.3444C>A	NP_001274688.1:p.His1148Gln
NM_001287760.2:c.3444C>A	NP_001274689.1:p.His1148Gln