Canonical Allele Identifier: CA2450541972
Gene: COL4A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108157154C= , CM000685.2:g.108157154C= GRCh38
NC_000023.10:g.107400384C= , CM000685.1:g.107400384C= GRCh37
NC_000023.9:g.107287040C= NCBI36
NG_012059.2:g.287321G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000334504.12:c.4919G= MANE Select ENSP00000334733.7:p.Gly1640=
ENST00000334504.11:c.4919G= ENSP00000334733.7:p.Gly1640=
ENST00000372216.8:c.4922G= ENSP00000361290.4:p.Gly1641=
ENST00000394872.6:c.4970G= ENSP00000378340.3:p.Gly1657=
ENST00000538570.5:c.4748G= ENSP00000445236.1:p.Gly1583=
ENST00000545689.2:c.4883G= ENSP00000443707.2:p.Gly1628=
ENST00000621266.4:c.4847G= ENSP00000482970.1:p.Gly1616=
NM_001287758.1:c.4970G= NP_001274687.1:p.Gly1657=
NM_001287759.1:c.4847G= NP_001274688.1:p.Gly1616=
NM_001287760.1:c.4748G= NP_001274689.1:p.Gly1583=
NM_001847.3:c.4922G= NP_001838.2:p.Gly1641=
NM_033641.3:c.4919G= NP_378667.1:p.Gly1640=
XM_006724617.2:c.4973G= XP_006724680.1:p.Gly1658=
XM_011530852.1:c.4901G= XP_011529154.1:p.Gly1634=
XM_011530853.1:c.4889G= XP_011529155.1:p.Gly1630=
XM_006724617.3:c.4973G= XP_006724680.1:p.Gly1658=
XM_011530852.2:c.4901G= XP_011529154.1:p.Gly1634=
XM_011530853.3:c.4889G= XP_011529155.1:p.Gly1630=
NM_001847.4:c.4922G= NP_001838.2:p.Gly1641=
NM_033641.4:c.4919G= MANE Select NP_378667.1:p.Gly1640=
NM_001287758.2:c.4970G= NP_001274687.1:p.Gly1657=
NM_001287759.2:c.4847G= NP_001274688.1:p.Gly1616=
NM_001287760.2:c.4748G= NP_001274689.1:p.Gly1583=