Canonical Allele Identifier: CA2623674609
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v4: 13-110179230-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179230C>T , CM000675.2:g.110179230C>T GRCh38
NC_000013.10:g.110831577C>T , CM000675.1:g.110831577C>T GRCh37
NC_000013.9:g.109629578C>T NCBI36
NG_011544.2:g.132920G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2344+41G>A MANE Select ENSP00000364979.4:n.2344+41G>A
ENST00000649738.1:n.2474+41G>A
ENST00000375820.8:c.2344+41G>A ENSP00000364979.4:n.2344+41G>A
NM_001845.5:c.2344+41G>A NP_001836.3:n.2344+41G>A
XM_011521048.1:c.2152+41G>A XP_011519350.1:n.2152+41G>A
XM_011521048.2:c.2152+41G>A XP_011519350.1:n.2152+41G>A
NM_001845.6:c.2344+41G>A MANE Select NP_001836.3:n.2344+41G>A
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