Canonical Allele Identifier: CA2118732770
Gene: COL4A1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179186A= , CM000675.2:g.110179186A= GRCh38
NC_000013.10:g.110831533A= , CM000675.1:g.110831533A= GRCh37
NC_000013.9:g.109629534A= NCBI36
NG_011544.2:g.132964T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2344+85T= MANE Select ENSP00000364979.4:n.2344+85T=
ENST00000649738.1:n.2474+85T=
ENST00000375820.8:c.2344+85T= ENSP00000364979.4:n.2344+85T=
NM_001845.5:c.2344+85T= NP_001836.3:n.2344+85T=
XM_011521048.1:c.2152+85T= XP_011519350.1:n.2152+85T=
XM_011521048.2:c.2152+85T= XP_011519350.1:n.2152+85T=
NM_001845.6:c.2344+85T= MANE Select NP_001836.3:n.2344+85T=
Search 100 bp 5'
Search 100 bp 3'