Canonical Allele Identifier: CA2118732780
Gene: COL4A1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179205T= , CM000675.2:g.110179205T= GRCh38
NC_000013.10:g.110831552T= , CM000675.1:g.110831552T= GRCh37
NC_000013.9:g.109629553T= NCBI36
NG_011544.2:g.132945A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2344+66A= MANE Select ENSP00000364979.4:n.2344+66A=
ENST00000649738.1:n.2474+66A=
ENST00000375820.8:c.2344+66A= ENSP00000364979.4:n.2344+66A=
NM_001845.5:c.2344+66A= NP_001836.3:n.2344+66A=
XM_011521048.1:c.2152+66A= XP_011519350.1:n.2152+66A=
XM_011521048.2:c.2152+66A= XP_011519350.1:n.2152+66A=
NM_001845.6:c.2344+66A= MANE Select NP_001836.3:n.2344+66A=
Search 100 bp 5'
Search 100 bp 3'