Canonical Allele Identifier: CA2118796688
Gene: COL4A1 HGNC NCBI
COL4A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110307027T= , CM000675.2:g.110307027T= GRCh38
NC_000013.10:g.110959374T= , CM000675.1:g.110959374T= GRCh37
NC_000013.9:g.109757375T= NCBI36
NG_011544.2:g.5123A=
NG_032137.1:g.4744T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.1A= (COL4A1) MANE Select ENSP00000364979.4:p.Met1=
ENST00000400163.7:c.-44-833T= (COL4A2) ENSP00000383027.3:n.-44-833T=
ENST00000543140.6:c.1A= (COL4A1) ENSP00000443348.1:p.Met1=
ENST00000649738.1:n.131A= (COL4A1)
ENST00000375820.8:c.1A= (COL4A1) ENSP00000364979.4:p.Met1=
ENST00000400163.6:c.-44-833T= (COL4A2) ENSP00000383027.2:n.-44-833T=
ENST00000543140.5:c.1A= (COL4A1) ENSP00000443348.1:p.Met1=
NM_001303110.1:c.1A= (COL4A1) NP_001290039.1:p.Met1=
NM_001845.5:c.1A= (COL4A1) NP_001836.3:p.Met1=
NM_001845.6:c.1A= (COL4A1) MANE Select NP_001836.3:p.Met1=
NM_001303110.2:c.1A= (COL4A1) NP_001290039.1:p.Met1=