Canonical Allele Identifier: CA258987
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 24706
ClinVar RCV Id: RCV000021585
dbSNP Id: rs104886269

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108681826G>T , CM000685.2:g.108681826G>T GRCh38
NC_000023.9:g.107811712G>T NCBI36
NC_000023.10:g.107925056G>T , CM000685.1:g.107925056G>T GRCh37
NG_011977.1:g.246903G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.10:c.4154G>T ENSP00000331902.6:p.Gly1385Val
ENST00000361603.6:c.4136G>T ENSP00000354505.2:p.Gly1379Val
ENST00000489230.1:n.557G>T
NM_000495.4:c.4136G>T VV NP_000486.1:p.Gly1379Val
NM_033380.2:c.4154G>T VV NP_203699.1:p.Gly1385Val
XM_005262070.2:c.4145G>T XP_005262127.1:p.Gly1382Val
XM_006724616.2:c.4154G>T XP_006724679.1:p.Gly1385Val
XM_011530849.1:c.3830G>T XP_011529151.1:p.Gly1277Val
XM_011530851.1:c.1727G>T XP_011529153.1:p.Gly576Val