Canonical Allele Identifier: CA259092
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886288

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108694817T>C , CM000685.2:g.108694817T>C GRCh38
NC_000023.10:g.107938047T>C , CM000685.1:g.107938047T>C GRCh37
NC_000023.9:g.107824703T>C NCBI36
NG_011977.1:g.259894T>C
NG_011977.2:g.259894T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4717T>C MANE Select ENSP00000331902.7:p.Cys1573Arg
ENST00000361603.7:c.4699T>C ENSP00000354505.2:p.Cys1567Arg
ENST00000510690.2:n.1211T>C
ENST00000644079.1:n.1203T>C
ENST00000328300.10:c.4717T>C ENSP00000331902.6:p.Cys1573Arg
ENST00000361603.6:c.4699T>C ENSP00000354505.2:p.Cys1567Arg
ENST00000504541.1:c.115T>C ENSP00000424845.1:p.Cys39Arg
ENST00000515658.1:c.325-1480T>C
NM_000495.4:c.4699T>C NP_000486.1:p.Cys1567Arg
NM_033380.2:c.4717T>C NP_203699.1:p.Cys1573Arg
XM_005262070.2:c.4708T>C XP_005262127.1:p.Cys1570Arg
XM_006724616.2:c.4717T>C XP_006724679.1:p.Cys1573Arg
XM_011530849.1:c.4393T>C XP_011529151.1:p.Cys1465Arg
XM_011530851.1:c.2290T>C XP_011529153.1:p.Cys764Arg
XM_011530849.2:c.4732T>C XP_011529151.2:p.Cys1578Arg
XM_017029259.2:c.4723T>C XP_016884748.1:p.Cys1575Arg
XM_017029260.1:c.4714T>C XP_016884749.1:p.Cys1572Arg
XM_017029263.2:c.3052T>C XP_016884752.1:p.Cys1018Arg
NM_000495.5:c.4699T>C NP_000486.1:p.Cys1567Arg
NM_033380.3:c.4717T>C MANE Select NP_203699.1:p.Cys1573Arg