Canonical Allele Identifier: CA517931944

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108169541G>A , CM000685.2:g.108169541G>A	GRCh38
NC_000023.10:g.107412771G>A , CM000685.1:g.107412771G>A	GRCh37
NC_000023.9:g.107299427G>A	NCBI36
NG_012059.2:g.274934C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.3645C>T MANE Select	ENSP00000334733.7:p.Ile1215=
ENST00000334504.11:c.3645C>T	ENSP00000334733.7:p.Ile1215=
ENST00000372216.8:c.3648C>T	ENSP00000361290.4:p.Ile1216=
ENST00000394872.6:c.3696C>T	ENSP00000378340.3:p.Ile1232=
ENST00000538570.5:c.3573C>T	ENSP00000445236.1:p.Ile1191=
ENST00000545689.2:c.3645C>T	ENSP00000443707.2:p.Ile1215=
ENST00000621266.4:c.3573C>T	ENSP00000482970.1:p.Ile1191=
NM_001287758.1:c.3696C>T	NP_001274687.1:p.Ile1232=
NM_001287759.1:c.3573C>T	NP_001274688.1:p.Ile1191=
NM_001287760.1:c.3573C>T	NP_001274689.1:p.Ile1191=
NM_001847.3:c.3648C>T	NP_001838.2:p.Ile1216=
NM_033641.3:c.3645C>T	NP_378667.1:p.Ile1215=
XM_006724617.2:c.3699C>T	XP_006724680.1:p.Ile1233=
XM_011530852.1:c.3627C>T	XP_011529154.1:p.Ile1209=
XM_011530853.1:c.3615C>T	XP_011529155.1:p.Ile1205=
XM_011530854.1:c.3699C>T	XP_011529156.1:p.Ile1233=
XM_006724617.3:c.3699C>T	XP_006724680.1:p.Ile1233=
XM_011530852.2:c.3627C>T	XP_011529154.1:p.Ile1209=
XM_011530853.3:c.3615C>T	XP_011529155.1:p.Ile1205=
XM_011530854.2:c.3699C>T	XP_011529156.1:p.Ile1233=
NM_001847.4:c.3648C>T	NP_001838.2:p.Ile1216=
NM_033641.4:c.3645C>T MANE Select	NP_378667.1:p.Ile1215=
NM_001287758.2:c.3696C>T	NP_001274687.1:p.Ile1232=
NM_001287759.2:c.3573C>T	NP_001274688.1:p.Ile1191=
NM_001287760.2:c.3573C>T	NP_001274689.1:p.Ile1191=