Canonical Allele Identifier: CA517933697

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108170616T>C , CM000685.2:g.108170616T>C	GRCh38
NC_000023.10:g.107413846T>C , CM000685.1:g.107413846T>C	GRCh37
NC_000023.9:g.107300502T>C	NCBI36
NG_012059.2:g.273859A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.3486A>G MANE Select	ENSP00000334733.7:p.Gly1162=
ENST00000334504.11:c.3486A>G	ENSP00000334733.7:p.Gly1162=
ENST00000372216.8:c.3489A>G	ENSP00000361290.4:p.Gly1163=
ENST00000394872.6:c.3537A>G	ENSP00000378340.3:p.Gly1179=
ENST00000538570.5:c.3486A>G	ENSP00000445236.1:p.Gly1162=
ENST00000545689.2:c.3486A>G	ENSP00000443707.2:p.Gly1162=
ENST00000621266.4:c.3486A>G	ENSP00000482970.1:p.Gly1162=
NM_001287758.1:c.3537A>G	NP_001274687.1:p.Gly1179=
NM_001287759.1:c.3486A>G	NP_001274688.1:p.Gly1162=
NM_001287760.1:c.3486A>G	NP_001274689.1:p.Gly1162=
NM_001847.3:c.3489A>G	NP_001838.2:p.Gly1163=
NM_033641.3:c.3486A>G	NP_378667.1:p.Gly1162=
XM_006724617.2:c.3540A>G	XP_006724680.1:p.Gly1180=
XM_011530852.1:c.3540A>G	XP_011529154.1:p.Gly1180=
XM_011530853.1:c.3456A>G	XP_011529155.1:p.Gly1152=
XM_011530854.1:c.3540A>G	XP_011529156.1:p.Gly1180=
XM_006724617.3:c.3540A>G	XP_006724680.1:p.Gly1180=
XM_011530852.2:c.3540A>G	XP_011529154.1:p.Gly1180=
XM_011530853.3:c.3456A>G	XP_011529155.1:p.Gly1152=
XM_011530854.2:c.3540A>G	XP_011529156.1:p.Gly1180=
NM_001847.4:c.3489A>G	NP_001838.2:p.Gly1163=
NM_033641.4:c.3486A>G MANE Select	NP_378667.1:p.Gly1162=
NM_001287758.2:c.3537A>G	NP_001274687.1:p.Gly1179=
NM_001287759.2:c.3486A>G	NP_001274688.1:p.Gly1162=
NM_001287760.2:c.3486A>G	NP_001274689.1:p.Gly1162=