Canonical Allele Identifier: CA2118737038
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173920G= , CM000675.2:g.110173920G= GRCh38
NC_000013.10:g.110826267G= , CM000675.1:g.110826267G= GRCh37
NC_000013.9:g.109624268G= NCBI36
NG_011544.2:g.138230C=

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3485C= MANE Select ENSP00000364979.4:p.Ala1162=
ENST00000375820.8:c.3485C= ENSP00000364979.4:p.Ala1162=
NM_001845.5:c.3485C= NP_001836.3:p.Ala1162=
XM_011521048.1:c.3293C= XP_011519350.1:p.Ala1098=
XM_011521048.2:c.3293C= XP_011519350.1:p.Ala1098=
NM_001845.6:c.3485C= MANE Select NP_001836.3:p.Ala1162=