Canonical Allele Identifier: CA259005
Gene: COL4A5 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.108686060C>T
GRCh37 chrX:g.107929290C>T
Revel Score:
ENST00000328300 (MANE Select) 0.651
ENST00000361603 0.651
ENST00000508186 0.651
gnomAD v2:
X:107929290 C / T
gnomAD v3:
X:108686060 C / T
gnomAD v4:
chrX-108686060-C-T
Joint Max Group AF 0.00004405 (NFE)
Genomes Max Group AF 0.00003699 (NFE)
Exomes Max Group AF 0.00004189 (NFE)
ClinVar Allele:
36059
ClinVar RCV:
RCV000021597
RCV000782215
RCV002247376
ClinVar Variation:
24718
dbSNP:
104886270
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108686060C>T , CM000685.2:g.108686060C>T GRCh38
NC_000023.10:g.107929290C>T , CM000685.1:g.107929290C>T GRCh37
NC_000023.9:g.107815946C>T NCBI36
NG_011977.1:g.251137C>T
NG_011977.2:g.251137C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4246C>T MANE Select ENSP00000331902.7:p.Arg1416Cys
ENST00000361603.7:c.4228C>T ENSP00000354505.2:p.Arg1410Cys
ENST00000510690.2:n.740C>T
ENST00000328300.10:c.4246C>T ENSP00000331902.6:p.Arg1416Cys
ENST00000361603.6:c.4228C>T ENSP00000354505.2:p.Arg1410Cys
ENST00000489230.1:n.649C>T
ENST00000515658.1:c.42C>T
NM_000495.4:c.4228C>T NP_000486.1:p.Arg1410Cys
NM_033380.2:c.4246C>T NP_203699.1:p.Arg1416Cys
XM_005262070.2:c.4237C>T XP_005262127.1:p.Arg1413Cys
XM_006724616.2:c.4246C>T XP_006724679.1:p.Arg1416Cys
XM_011530849.1:c.3922C>T XP_011529151.1:p.Arg1308Cys
XM_011530851.1:c.1819C>T XP_011529153.1:p.Arg607Cys
XM_011530849.2:c.4261C>T XP_011529151.2:p.Arg1421Cys
XM_017029259.2:c.4252C>T XP_016884748.1:p.Arg1418Cys
XM_017029260.1:c.4243C>T XP_016884749.1:p.Arg1415Cys
XM_017029263.2:c.2581C>T XP_016884752.1:p.Arg861Cys
NM_000495.5:c.4228C>T NP_000486.1:p.Arg1410Cys
NM_033380.3:c.4246C>T MANE Select NP_203699.1:p.Arg1416Cys
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