Canonical Allele Identifier: CA2623675294
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v4: 13-110192132-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110192132G>T , CM000675.2:g.110192132G>T GRCh38
NC_000013.10:g.110844479G>T , CM000675.1:g.110844479G>T GRCh37
NC_000013.9:g.109642480G>T NCBI36
NG_011544.2:g.120018C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.1536+82C>A MANE Select ENSP00000364979.4:n.1536+82C>A
ENST00000543140.6:c.1536+82C>A ENSP00000443348.1:n.1536+82C>A
ENST00000649738.1:n.1666+82C>A
ENST00000375820.8:c.1536+82C>A ENSP00000364979.4:n.1536+82C>A
ENST00000543140.5:c.1536+82C>A ENSP00000443348.1:n.1536+82C>A
NM_001303110.1:c.1536+82C>A NP_001290039.1:n.1536+82C>A
NM_001845.5:c.1536+82C>A NP_001836.3:n.1536+82C>A
XM_011521048.1:c.1344+82C>A XP_011519350.1:n.1344+82C>A
XM_011521048.2:c.1344+82C>A XP_011519350.1:n.1344+82C>A
NM_001845.6:c.1536+82C>A MANE Select NP_001836.3:n.1536+82C>A
NM_001303110.2:c.1536+82C>A NP_001290039.1:n.1536+82C>A
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