Canonical Allele Identifier: CA2118731605
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110177950A= , CM000675.2:g.110177950A= GRCh38
NC_000013.10:g.110830297A= , CM000675.1:g.110830297A= GRCh37
NC_000013.9:g.109628298A= NCBI36
NG_011544.2:g.134200T=

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.2627-19T= MANE Select ENSP00000364979.4:n.2627-19T=
ENST00000375820.8:c.2627-19T= ENSP00000364979.4:n.2627-19T=
NM_001845.5:c.2627-19T= NP_001836.3:n.2627-19T=
XM_011521048.1:c.2435-19T= XP_011519350.1:n.2435-19T=
XM_011521048.2:c.2435-19T= XP_011519350.1:n.2435-19T=
NM_001845.6:c.2627-19T= MANE Select NP_001836.3:n.2627-19T=