Canonical Allele Identifier: CA2118733086
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169949A= , CM000675.2:g.110169949A= GRCh38
NC_000013.10:g.110822296A= , CM000675.1:g.110822296A= GRCh37
NC_000013.9:g.109620297A= NCBI36
NG_011544.2:g.142201T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3743-187T= MANE Select ENSP00000364979.4:n.3743-187T=
ENST00000375820.8:c.3743-187T= ENSP00000364979.4:n.3743-187T=
NM_001845.5:c.3743-187T= NP_001836.3:n.3743-187T=
XM_011521048.1:c.3551-187T= XP_011519350.1:n.3551-187T=
XM_011521048.2:c.3551-187T= XP_011519350.1:n.3551-187T=
NM_001845.6:c.3743-187T= MANE Select NP_001836.3:n.3743-187T=