Canonical Allele Identifier: CA413848747
Gene: COL4A6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108157233C>A , CM000685.2:g.108157233C>A GRCh38
NC_000023.10:g.107400463C>A , CM000685.1:g.107400463C>A GRCh37
NC_000023.9:g.107287119C>A NCBI36
NG_012059.2:g.287242G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334504.12:c.4840G>T MANE Select ENSP00000334733.7:p.Gly1614Cys
ENST00000334504.11:c.4840G>T ENSP00000334733.7:p.Gly1614Cys
ENST00000372216.8:c.4843G>T ENSP00000361290.4:p.Gly1615Cys
ENST00000394872.6:c.4891G>T ENSP00000378340.3:p.Gly1631Cys
ENST00000538570.5:c.4669G>T ENSP00000445236.1:p.Gly1557Cys
ENST00000545689.2:c.4804G>T ENSP00000443707.2:p.Gly1602Cys
ENST00000621266.4:c.4768G>T ENSP00000482970.1:p.Gly1590Cys
NM_001287758.1:c.4891G>T NP_001274687.1:p.Gly1631Cys
NM_001287759.1:c.4768G>T NP_001274688.1:p.Gly1590Cys
NM_001287760.1:c.4669G>T NP_001274689.1:p.Gly1557Cys
NM_001847.3:c.4843G>T NP_001838.2:p.Gly1615Cys
NM_033641.3:c.4840G>T NP_378667.1:p.Gly1614Cys
XM_006724617.2:c.4894G>T XP_006724680.1:p.Gly1632Cys
XM_011530852.1:c.4822G>T XP_011529154.1:p.Gly1608Cys
XM_011530853.1:c.4810G>T XP_011529155.1:p.Gly1604Cys
XM_006724617.3:c.4894G>T XP_006724680.1:p.Gly1632Cys
XM_011530852.2:c.4822G>T XP_011529154.1:p.Gly1608Cys
XM_011530853.3:c.4810G>T XP_011529155.1:p.Gly1604Cys
NM_001847.4:c.4843G>T NP_001838.2:p.Gly1615Cys
NM_033641.4:c.4840G>T MANE Select NP_378667.1:p.Gly1614Cys
NM_001287758.2:c.4891G>T NP_001274687.1:p.Gly1631Cys
NM_001287759.2:c.4768G>T NP_001274688.1:p.Gly1590Cys
NM_001287760.2:c.4669G>T NP_001274689.1:p.Gly1557Cys