Canonical Allele Identifier: CA258835
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 24606
ClinVar RCV Id: RCV000021485
dbSNP Id: rs104886222

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108626315C>G , CM000685.2:g.108626315C>G GRCh38
NC_000023.10:g.107869545C>G , CM000685.1:g.107869545C>G GRCh37
NC_000023.9:g.107756201C>G NCBI36
NG_011977.1:g.191392C>G
NG_011977.2:g.191392C>G

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.3212C>G VV NP_000486.1:p.Ser1071Ter
NM_033380.2:c.3212C>G VV NP_203699.1:p.Ser1071Ter
XM_005262070.2:c.3212C>G XP_005262127.1:p.Ser1071Ter
XM_005262072.3:c.3212C>G XP_005262129.1:p.Ser1071Ter
XM_006724616.2:c.3212C>G XP_006724679.1:p.Ser1071Ter
XM_011530849.1:c.2888C>G XP_011529151.1:p.Ser963Ter
XM_011530850.1:c.3212C>G XP_011529152.1:p.Ser1071Ter
XM_011530851.1:c.785C>G XP_011529153.1:p.Ser262Ter
XM_011530849.2:c.3227C>G XP_011529151.2:p.Ser1076Ter
XM_017029259.2:c.3227C>G XP_016884748.1:p.Ser1076Ter
XM_017029260.1:c.3227C>G XP_016884749.1:p.Ser1076Ter
XM_017029261.1:c.3227C>G XP_016884750.1:p.Ser1076Ter
XM_017029262.2:c.3227C>G XP_016884751.1:p.Ser1076Ter
XM_017029263.2:c.1547C>G XP_016884752.1:p.Ser516Ter
ENST00000328300.10:c.3212C>G ENSP00000331902.6:p.Ser1071Ter
ENST00000361603.6:c.3212C>G ENSP00000354505.2:p.Ser1071Ter
ENST00000483338.1:n.2668C>G
ENST00000505728.1:n.445C>G