Canonical Allele Identifier: CA2450541931
Gene: COL4A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108157014T= , CM000685.2:g.108157014T= GRCh38
NC_000023.10:g.107400244T= , CM000685.1:g.107400244T= GRCh37
NC_000023.9:g.107286900T= NCBI36
NG_012059.2:g.287461A=

Transcript Alleles

HGVS Amino-acid change
ENST00000334504.12:c.5059A= MANE Select ENSP00000334733.7:p.Met1687=
ENST00000334504.11:c.5059A= ENSP00000334733.7:p.Met1687=
ENST00000372216.8:c.5062A= ENSP00000361290.4:p.Met1688=
ENST00000394872.6:c.5110A= ENSP00000378340.3:p.Met1704=
ENST00000538570.5:c.4888A= ENSP00000445236.1:p.Met1630=
ENST00000545689.2:c.5023A= ENSP00000443707.2:p.Met1675=
ENST00000621266.4:c.4987A= ENSP00000482970.1:p.Met1663=
NM_001287758.1:c.5110A= NP_001274687.1:p.Met1704=
NM_001287759.1:c.4987A= NP_001274688.1:p.Met1663=
NM_001287760.1:c.4888A= NP_001274689.1:p.Met1630=
NM_001847.3:c.5062A= NP_001838.2:p.Met1688=
NM_033641.3:c.5059A= NP_378667.1:p.Met1687=
XM_006724617.2:c.5113A= XP_006724680.1:p.Met1705=
XM_011530852.1:c.5041A= XP_011529154.1:p.Met1681=
XM_011530853.1:c.5029A= XP_011529155.1:p.Met1677=
XM_006724617.3:c.5113A= XP_006724680.1:p.Met1705=
XM_011530852.2:c.5041A= XP_011529154.1:p.Met1681=
XM_011530853.3:c.5029A= XP_011529155.1:p.Met1677=
NM_001847.4:c.5062A= NP_001838.2:p.Met1688=
NM_033641.4:c.5059A= MANE Select NP_378667.1:p.Met1687=
NM_001287758.2:c.5110A= NP_001274687.1:p.Met1704=
NM_001287759.2:c.4987A= NP_001274688.1:p.Met1663=
NM_001287760.2:c.4888A= NP_001274689.1:p.Met1630=