Canonical Allele Identifier: CA7047146
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 731116
ClinVar RCV Id: RCV000906017 RCV002487975
dbSNP Id: rs372343245
ExAC: 13:110822102 C / T
gnomAD v2: 13-110822102-C-T
gnomAD v3: 13-110169755-C-T
gnomAD v4: 13-110169755-C-T
MyVariant Identifiers: chr13:g.110822102C>T (hg19) chr13:g.110169755C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169755C>T , CM000675.2:g.110169755C>T GRCh38
NC_000013.10:g.110822102C>T , CM000675.1:g.110822102C>T GRCh37
NC_000013.9:g.109620103C>T NCBI36
NG_011544.2:g.142395G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3750G>A MANE Select ENSP00000364979.4:p.Pro1250=
ENST00000375820.8:c.3750G>A ENSP00000364979.4:p.Pro1250=
NM_001845.5:c.3750G>A NP_001836.3:p.Pro1250=
XM_011521048.1:c.3558G>A XP_011519350.1:p.Pro1186=
XM_011521048.2:c.3558G>A XP_011519350.1:p.Pro1186=
NM_001845.6:c.3750G>A MANE Select NP_001836.3:p.Pro1250=
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