Canonical Allele Identifier: CA484788723
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110822015G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169668G>T , CM000675.2:g.110169668G>T GRCh38
NC_000013.10:g.110822015G>T , CM000675.1:g.110822015G>T GRCh37
NC_000013.9:g.109620016G>T NCBI36
NG_011544.2:g.142482C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3837C>A MANE Select ENSP00000364979.4:p.Val1279=
ENST00000375820.8:c.3837C>A ENSP00000364979.4:p.Val1279=
NM_001845.5:c.3837C>A NP_001836.3:p.Val1279=
XM_011521048.1:c.3645C>A XP_011519350.1:p.Val1215=
XM_011521048.2:c.3645C>A XP_011519350.1:p.Val1215=
NM_001845.6:c.3837C>A MANE Select NP_001836.3:p.Val1279=