Canonical Allele Identifier: CA10487566

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108175676A>G , CM000685.2:g.108175676A>G	GRCh38
NC_000023.10:g.107418906A>G , CM000685.1:g.107418906A>G	GRCh37
NC_000023.9:g.107305562A>G	NCBI36
NG_012059.2:g.268799T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.2808T>C MANE Select	ENSP00000334733.7:p.Arg936=
ENST00000334504.11:c.2808T>C	ENSP00000334733.7:p.Arg936=
ENST00000372216.8:c.2811T>C	ENSP00000361290.4:p.Arg937=
ENST00000394872.6:c.2859T>C	ENSP00000378340.3:p.Arg953=
ENST00000538570.5:c.2808T>C	ENSP00000445236.1:p.Arg936=
ENST00000545689.2:c.2808T>C	ENSP00000443707.2:p.Arg936=
ENST00000621266.4:c.2808T>C	ENSP00000482970.1:p.Arg936=
NM_001287758.1:c.2859T>C	NP_001274687.1:p.Arg953=
NM_001287759.1:c.2808T>C	NP_001274688.1:p.Arg936=
NM_001287760.1:c.2808T>C	NP_001274689.1:p.Arg936=
NM_001847.3:c.2811T>C	NP_001838.2:p.Arg937=
NM_033641.3:c.2808T>C	NP_378667.1:p.Arg936=
XM_006724617.2:c.2862T>C	XP_006724680.1:p.Arg954=
XM_011530852.1:c.2862T>C	XP_011529154.1:p.Arg954=
XM_011530853.1:c.2778T>C	XP_011529155.1:p.Arg926=
XM_011530854.1:c.2862T>C	XP_011529156.1:p.Arg954=
XM_006724617.3:c.2862T>C	XP_006724680.1:p.Arg954=
XM_011530852.2:c.2862T>C	XP_011529154.1:p.Arg954=
XM_011530853.3:c.2778T>C	XP_011529155.1:p.Arg926=
XM_011530854.2:c.2862T>C	XP_011529156.1:p.Arg954=
XR_001755650.1:n.2947T>C
NM_001847.4:c.2811T>C	NP_001838.2:p.Arg937=
NM_033641.4:c.2808T>C MANE Select	NP_378667.1:p.Arg936=
NM_001287758.2:c.2859T>C	NP_001274687.1:p.Arg953=
NM_001287759.2:c.2808T>C	NP_001274688.1:p.Arg936=
NM_001287760.2:c.2808T>C	NP_001274689.1:p.Arg936=