Canonical Allele Identifier: CA388661974
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v4: 13-110169732-A-G
MyVariant Identifiers: chr13:g.110822079A>G (hg19) chr13:g.110169732A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169732A>G , CM000675.2:g.110169732A>G GRCh38
NC_000013.10:g.110822079A>G , CM000675.1:g.110822079A>G GRCh37
NC_000013.9:g.109620080A>G NCBI36
NG_011544.2:g.142418T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3773T>C MANE Select ENSP00000364979.4:p.Leu1258Pro
ENST00000375820.8:c.3773T>C ENSP00000364979.4:p.Leu1258Pro
NM_001845.5:c.3773T>C NP_001836.3:p.Leu1258Pro
XM_011521048.1:c.3581T>C XP_011519350.1:p.Leu1194Pro
XM_011521048.2:c.3581T>C XP_011519350.1:p.Leu1194Pro
NM_001845.6:c.3773T>C MANE Select NP_001836.3:p.Leu1258Pro
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