Canonical Allele Identifier: CA351668
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 222061
ClinVar RCV Id: RCV000207631
dbSNP Id: rs869025333

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108539746G>T , CM000685.2:g.108539746G>T GRCh38
NC_000023.10:g.107782976G>T , CM000685.1:g.107782976G>T GRCh37
NC_000023.9:g.107669632G>T NCBI36
NG_011977.1:g.104823G>T
NG_011977.2:g.104823G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.82G>T MANE Select ENSP00000331902.7:p.Ala28Ser
ENST00000361603.7:c.82G>T ENSP00000354505.2:p.Ala28Ser
ENST00000328300.10:c.82G>T ENSP00000331902.6:p.Ala28Ser
ENST00000361603.6:c.82G>T ENSP00000354505.2:p.Ala28Ser
ENST00000470339.1:n.266G>T
NM_000495.4:c.82G>T NP_000486.1:p.Ala28Ser
NM_033380.2:c.82G>T NP_203699.1:p.Ala28Ser
XM_005262070.2:c.82G>T XP_005262127.1:p.Ala28Ser
XM_005262072.3:c.82G>T XP_005262129.1:p.Ala28Ser
XM_006724616.2:c.82G>T XP_006724679.1:p.Ala28Ser
XM_011530849.1:c.-243G>T XP_011529151.1:n.-243G>T
XM_011530850.1:c.82G>T XP_011529152.1:p.Ala28Ser
XM_011530849.2:c.97G>T XP_011529151.2:p.Ala33Ser
XM_017029259.2:c.97G>T XP_016884748.1:p.Ala33Ser
XM_017029260.1:c.97G>T XP_016884749.1:p.Ala33Ser
XM_017029261.1:c.97G>T XP_016884750.1:p.Ala33Ser
XM_017029262.2:c.97G>T XP_016884751.1:p.Ala33Ser
NM_000495.5:c.82G>T NP_000486.1:p.Ala28Ser
NM_033380.3:c.82G>T MANE Select NP_203699.1:p.Ala28Ser