Canonical Allele Identifier: CA258197
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 24226
ClinVar RCV Id: RCV000021104
dbSNP Id: rs104886049

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108440138G>T , CM000685.2:g.108440138G>T GRCh38
NC_000023.10:g.107683368G>T , CM000685.1:g.107683368G>T GRCh37
NC_000023.9:g.107570024G>T NCBI36
NG_011977.1:g.5215G>T
NG_012059.2:g.4337C>A
NG_011977.2:g.5215G>T

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.13G>T VV NP_000486.1:p.Gly5Ter
NM_033380.2:c.13G>T VV NP_203699.1:p.Gly5Ter
XM_005262070.2:c.13G>T XP_005262127.1:p.Gly5Ter
XM_005262072.3:c.13G>T XP_005262129.1:p.Gly5Ter
XM_006724616.2:c.13G>T XP_006724679.1:p.Gly5Ter
XM_011530850.1:c.13G>T XP_011529152.1:p.Gly5Ter
ENST00000328300.10:c.13G>T ENSP00000331902.6:p.Gly5Ter
ENST00000361603.6:c.13G>T ENSP00000354505.2:p.Gly5Ter
ENST00000470339.1:n.197G>T
ENST00000477429.1:n.295G>T