Canonical Allele Identifier: CA2118732745
Gene: COL4A1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169669A= , CM000675.2:g.110169669A= GRCh38
NC_000013.10:g.110822016A= , CM000675.1:g.110822016A= GRCh37
NC_000013.9:g.109620017A= NCBI36
NG_011544.2:g.142481T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3836T= MANE Select ENSP00000364979.4:p.Val1279=
ENST00000375820.8:c.3836T= ENSP00000364979.4:p.Val1279=
NM_001845.5:c.3836T= NP_001836.3:p.Val1279=
XM_011521048.1:c.3644T= XP_011519350.1:p.Val1215=
XM_011521048.2:c.3644T= XP_011519350.1:p.Val1215=
NM_001845.6:c.3836T= MANE Select NP_001836.3:p.Val1279=
Search 100 bp 5'
Search 100 bp 3'