Canonical Allele Identifier: CA2118737434
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110174363G= , CM000675.2:g.110174363G= GRCh38
NC_000013.10:g.110826710G= , CM000675.1:g.110826710G= GRCh37
NC_000013.9:g.109624711G= NCBI36
NG_011544.2:g.137787C=

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3406+83C= MANE Select ENSP00000364979.4:n.3406+83C=
ENST00000375820.8:c.3406+83C= ENSP00000364979.4:n.3406+83C=
NM_001845.5:c.3406+83C= NP_001836.3:n.3406+83C=
XM_011521048.1:c.3214+83C= XP_011519350.1:n.3214+83C=
XM_011521048.2:c.3214+83C= XP_011519350.1:n.3214+83C=
NM_001845.6:c.3406+83C= MANE Select NP_001836.3:n.3406+83C=