Canonical Allele Identifier: CA2623672745
Gene: COL4A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169784A>G , CM000675.2:g.110169784A>G GRCh38
NC_000013.10:g.110822131A>G , CM000675.1:g.110822131A>G GRCh37
NC_000013.9:g.109620132A>G NCBI36
NG_011544.2:g.142366T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3743-22T>C MANE Select ENSP00000364979.4:n.3743-22T>C
ENST00000375820.8:c.3743-22T>C ENSP00000364979.4:n.3743-22T>C
NM_001845.5:c.3743-22T>C NP_001836.3:n.3743-22T>C
XM_011521048.1:c.3551-22T>C XP_011519350.1:n.3551-22T>C
XM_011521048.2:c.3551-22T>C XP_011519350.1:n.3551-22T>C
NM_001845.6:c.3743-22T>C MANE Select NP_001836.3:n.3743-22T>C