Canonical Allele Identifier: CA388664116
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2137541
ClinVar RCV Id: RCV003062607
MyVariant Identifiers: chr13:g.110826255C>T (hg19) chr13:g.110173908C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173908C>T , CM000675.2:g.110173908C>T GRCh38
NC_000013.10:g.110826255C>T , CM000675.1:g.110826255C>T GRCh37
NC_000013.9:g.109624256C>T NCBI36
NG_011544.2:g.138242G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3497G>A MANE Select ENSP00000364979.4:p.Gly1166Asp
ENST00000375820.8:c.3497G>A ENSP00000364979.4:p.Gly1166Asp
NM_001845.5:c.3497G>A NP_001836.3:p.Gly1166Asp
XM_011521048.1:c.3305G>A XP_011519350.1:p.Gly1102Asp
XM_011521048.2:c.3305G>A XP_011519350.1:p.Gly1102Asp
NM_001845.6:c.3497G>A MANE Select NP_001836.3:p.Gly1166Asp
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