Canonical Allele Identifier: CA7047070
Gene: COL4A1 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.110166251T>A
GRCh37 chr13:g.110818598T>A
Revel Score:
ENST00000375815 0.339
ENST00000375820 (MANE Select) 0.339
ENST00000397198 0.339
gnomAD v2:
13:110818598 T / A
gnomAD v3:
13:110166251 T / A
gnomAD v4:
chr13-110166251-T-A
Joint Max Group AF 0.00010067 (SAS)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00010719 (SAS)
ClinVar RCV:
RCV002611999
ClinVar Variation:
2190018
dbSNP:
3742207
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110166251T>A , CM000675.2:g.110166251T>A GRCh38
NC_000013.10:g.110818598T>A , CM000675.1:g.110818598T>A GRCh37
NC_000013.9:g.109616599T>A NCBI36
NG_011544.2:g.145899A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.4002A>T MANE Select ENSP00000364979.4:p.Gln1334His
ENST00000650424.1:c.158A>T
ENST00000375820.8:c.4002A>T ENSP00000364979.4:p.Gln1334His
NM_001845.5:c.4002A>T NP_001836.3:p.Gln1334His
XM_011521048.1:c.3810A>T XP_011519350.1:p.Gln1270His
XM_011521048.2:c.3810A>T XP_011519350.1:p.Gln1270His
NM_001845.6:c.4002A>T MANE Select NP_001836.3:p.Gln1334His
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