Canonical Allele Identifier: CA7047636
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 882176
ClinVar RCV Id: RCV001111626 RCV002069801 RCV002249711
dbSNP Id: rs373696600
ExAC: 13:110831606 G / T
gnomAD v2: 13-110831606-G-T
gnomAD v4: 13-110179259-G-T
MyVariant Identifiers: chr13:g.110831606G>T (hg19) chr13:g.110179259G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179259G>T , CM000675.2:g.110179259G>T GRCh38
NC_000013.10:g.110831606G>T , CM000675.1:g.110831606G>T GRCh37
NC_000013.9:g.109629607G>T NCBI36
NG_011544.2:g.132891C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2344+12C>A MANE Select ENSP00000364979.4:n.2344+12C>A
ENST00000649738.1:n.2474+12C>A
ENST00000375820.8:c.2344+12C>A ENSP00000364979.4:n.2344+12C>A
NM_001845.5:c.2344+12C>A NP_001836.3:n.2344+12C>A
XM_011521048.1:c.2152+12C>A XP_011519350.1:n.2152+12C>A
XM_011521048.2:c.2152+12C>A XP_011519350.1:n.2152+12C>A
NM_001845.6:c.2344+12C>A MANE Select NP_001836.3:n.2344+12C>A
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