Canonical Allele Identifier: CA2118732762
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179173A= , CM000675.2:g.110179173A= GRCh38
NC_000013.10:g.110831520A= , CM000675.1:g.110831520A= GRCh37
NC_000013.9:g.109629521A= NCBI36
NG_011544.2:g.132977T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2344+98T= MANE Select ENSP00000364979.4:n.2344+98T=
ENST00000649738.1:n.2474+98T=
ENST00000375820.8:c.2344+98T= ENSP00000364979.4:n.2344+98T=
NM_001845.5:c.2344+98T= NP_001836.3:n.2344+98T=
XM_011521048.1:c.2152+98T= XP_011519350.1:n.2152+98T=
XM_011521048.2:c.2152+98T= XP_011519350.1:n.2152+98T=
NM_001845.6:c.2344+98T= MANE Select NP_001836.3:n.2344+98T=