Canonical Allele Identifier: CA259112
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886296

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108694886T>G , CM000685.2:g.108694886T>G GRCh38
NC_000023.10:g.107938116T>G , CM000685.1:g.107938116T>G GRCh37
NC_000023.9:g.107824772T>G NCBI36
NG_011977.1:g.259963T>G
NG_011977.2:g.259963T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4786T>G MANE Select ENSP00000331902.7:p.Trp1596Gly
ENST00000361603.7:c.4768T>G ENSP00000354505.2:p.Trp1590Gly
ENST00000510690.2:n.1280T>G
ENST00000644079.1:n.1272T>G
ENST00000328300.10:c.4786T>G ENSP00000331902.6:p.Trp1596Gly
ENST00000361603.6:c.4768T>G ENSP00000354505.2:p.Trp1590Gly
ENST00000504541.1:c.184T>G ENSP00000424845.1:p.Trp62Gly
ENST00000515658.1:c.325-1411T>G
NM_000495.4:c.4768T>G NP_000486.1:p.Trp1590Gly
NM_033380.2:c.4786T>G NP_203699.1:p.Trp1596Gly
XM_005262070.2:c.4777T>G XP_005262127.1:p.Trp1593Gly
XM_006724616.2:c.4786T>G XP_006724679.1:p.Trp1596Gly
XM_011530849.1:c.4462T>G XP_011529151.1:p.Trp1488Gly
XM_011530851.1:c.2359T>G XP_011529153.1:p.Trp787Gly
XM_011530849.2:c.4801T>G XP_011529151.2:p.Trp1601Gly
XM_017029259.2:c.4792T>G XP_016884748.1:p.Trp1598Gly
XM_017029260.1:c.4783T>G XP_016884749.1:p.Trp1595Gly
XM_017029263.2:c.3121T>G XP_016884752.1:p.Trp1041Gly
NM_000495.5:c.4768T>G NP_000486.1:p.Trp1590Gly
NM_033380.3:c.4786T>G MANE Select NP_203699.1:p.Trp1596Gly