Canonical Allele Identifier: CA388664387
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110826826A>T (hg19) chr13:g.110174479A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110174479A>T , CM000675.2:g.110174479A>T GRCh38
NC_000013.10:g.110826826A>T , CM000675.1:g.110826826A>T GRCh37
NC_000013.9:g.109624827A>T NCBI36
NG_011544.2:g.137671T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3373T>A MANE Select ENSP00000364979.4:p.Leu1125Met
ENST00000375820.8:c.3373T>A ENSP00000364979.4:p.Leu1125Met
NM_001845.5:c.3373T>A NP_001836.3:p.Leu1125Met
XM_011521048.1:c.3181T>A XP_011519350.1:p.Leu1061Met
XM_011521048.2:c.3181T>A XP_011519350.1:p.Leu1061Met
NM_001845.6:c.3373T>A MANE Select NP_001836.3:p.Leu1125Met
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