Canonical Allele Identifier: CA2623675291
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v4: 13-110192127-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110192127T>G , CM000675.2:g.110192127T>G GRCh38
NC_000013.10:g.110844474T>G , CM000675.1:g.110844474T>G GRCh37
NC_000013.9:g.109642475T>G NCBI36
NG_011544.2:g.120023A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.1536+87A>C MANE Select ENSP00000364979.4:n.1536+87A>C
ENST00000543140.6:c.1536+87A>C ENSP00000443348.1:n.1536+87A>C
ENST00000649738.1:n.1666+87A>C
ENST00000375820.8:c.1536+87A>C ENSP00000364979.4:n.1536+87A>C
ENST00000543140.5:c.1536+87A>C ENSP00000443348.1:n.1536+87A>C
NM_001303110.1:c.1536+87A>C NP_001290039.1:n.1536+87A>C
NM_001845.5:c.1536+87A>C NP_001836.3:n.1536+87A>C
XM_011521048.1:c.1344+87A>C XP_011519350.1:n.1344+87A>C
XM_011521048.2:c.1344+87A>C XP_011519350.1:n.1344+87A>C
NM_001845.6:c.1536+87A>C MANE Select NP_001836.3:n.1536+87A>C
NM_001303110.2:c.1536+87A>C NP_001290039.1:n.1536+87A>C
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