Canonical Allele Identifier: CA10487267

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108164628G>A , CM000685.2:g.108164628G>A	GRCh38
NC_000023.10:g.107407858G>A , CM000685.1:g.107407858G>A	GRCh37
NC_000023.9:g.107294514G>A	NCBI36
NG_012059.2:g.279847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4041C>T MANE Select	ENSP00000334733.7:p.Pro1347=
ENST00000334504.11:c.4041C>T	ENSP00000334733.7:p.Pro1347=
ENST00000372216.8:c.4044C>T	ENSP00000361290.4:p.Pro1348=
ENST00000394872.6:c.4092C>T	ENSP00000378340.3:p.Pro1364=
ENST00000538570.5:c.3898+249C>T	ENSP00000445236.1:n.3898+249C>T
ENST00000545689.2:c.4005C>T	ENSP00000443707.2:p.Pro1335=
ENST00000621266.4:c.3969C>T	ENSP00000482970.1:p.Pro1323=
NM_001287758.1:c.4092C>T	NP_001274687.1:p.Pro1364=
NM_001287759.1:c.3969C>T	NP_001274688.1:p.Pro1323=
NM_001287760.1:c.3898+249C>T	NP_001274689.1:n.3898+249C>T
NM_001847.3:c.4044C>T	NP_001838.2:p.Pro1348=
NM_033641.3:c.4041C>T	NP_378667.1:p.Pro1347=
XM_006724617.2:c.4095C>T	XP_006724680.1:p.Pro1365=
XM_011530852.1:c.4023C>T	XP_011529154.1:p.Pro1341=
XM_011530853.1:c.4011C>T	XP_011529155.1:p.Pro1337=
XM_006724617.3:c.4095C>T	XP_006724680.1:p.Pro1365=
XM_011530852.2:c.4023C>T	XP_011529154.1:p.Pro1341=
XM_011530853.3:c.4011C>T	XP_011529155.1:p.Pro1337=
NM_001847.4:c.4044C>T	NP_001838.2:p.Pro1348=
NM_033641.4:c.4041C>T MANE Select	NP_378667.1:p.Pro1347=
NM_001287758.2:c.4092C>T	NP_001274687.1:p.Pro1364=
NM_001287759.2:c.3969C>T	NP_001274688.1:p.Pro1323=
NM_001287760.2:c.3898+249C>T	NP_001274689.1:n.3898+249C>T