Canonical Allele Identifier: CA2450542003
Gene: COL4A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108157258G= , CM000685.2:g.108157258G= GRCh38
NC_000023.10:g.107400488G= , CM000685.1:g.107400488G= GRCh37
NC_000023.9:g.107287144G= NCBI36
NG_012059.2:g.287217C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000334504.12:c.4815C= MANE Select ENSP00000334733.7:p.His1605=
ENST00000334504.11:c.4815C= ENSP00000334733.7:p.His1605=
ENST00000372216.8:c.4818C= ENSP00000361290.4:p.His1606=
ENST00000394872.6:c.4866C= ENSP00000378340.3:p.His1622=
ENST00000538570.5:c.4644C= ENSP00000445236.1:p.His1548=
ENST00000545689.2:c.4779C= ENSP00000443707.2:p.His1593=
ENST00000621266.4:c.4743C= ENSP00000482970.1:p.His1581=
NM_001287758.1:c.4866C= NP_001274687.1:p.His1622=
NM_001287759.1:c.4743C= NP_001274688.1:p.His1581=
NM_001287760.1:c.4644C= NP_001274689.1:p.His1548=
NM_001847.3:c.4818C= NP_001838.2:p.His1606=
NM_033641.3:c.4815C= NP_378667.1:p.His1605=
XM_006724617.2:c.4869C= XP_006724680.1:p.His1623=
XM_011530852.1:c.4797C= XP_011529154.1:p.His1599=
XM_011530853.1:c.4785C= XP_011529155.1:p.His1595=
XM_006724617.3:c.4869C= XP_006724680.1:p.His1623=
XM_011530852.2:c.4797C= XP_011529154.1:p.His1599=
XM_011530853.3:c.4785C= XP_011529155.1:p.His1595=
NM_001847.4:c.4818C= NP_001838.2:p.His1606=
NM_033641.4:c.4815C= MANE Select NP_378667.1:p.His1605=
NM_001287758.2:c.4866C= NP_001274687.1:p.His1622=
NM_001287759.2:c.4743C= NP_001274688.1:p.His1581=
NM_001287760.2:c.4644C= NP_001274689.1:p.His1548=