Canonical Allele Identifier: CA2118737461
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110174390T= , CM000675.2:g.110174390T= GRCh38
NC_000013.10:g.110826737T= , CM000675.1:g.110826737T= GRCh37
NC_000013.9:g.109624738T= NCBI36
NG_011544.2:g.137760A=

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3406+56A= MANE Select ENSP00000364979.4:n.3406+56A=
ENST00000375820.8:c.3406+56A= ENSP00000364979.4:n.3406+56A=
NM_001845.5:c.3406+56A= NP_001836.3:n.3406+56A=
XM_011521048.1:c.3214+56A= XP_011519350.1:n.3214+56A=
XM_011521048.2:c.3214+56A= XP_011519350.1:n.3214+56A=
NM_001845.6:c.3406+56A= MANE Select NP_001836.3:n.3406+56A=