Canonical Allele Identifier: CA388661703
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110821987G>T (hg19) chr13:g.110169640G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169640G>T , CM000675.2:g.110169640G>T GRCh38
NC_000013.10:g.110821987G>T , CM000675.1:g.110821987G>T GRCh37
NC_000013.9:g.109619988G>T NCBI36
NG_011544.2:g.142510C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3865C>A MANE Select ENSP00000364979.4:p.Gln1289Lys
ENST00000650424.1:c.21C>A
ENST00000375820.8:c.3865C>A ENSP00000364979.4:p.Gln1289Lys
NM_001845.5:c.3865C>A NP_001836.3:p.Gln1289Lys
XM_011521048.1:c.3673C>A XP_011519350.1:p.Gln1225Lys
XM_011521048.2:c.3673C>A XP_011519350.1:p.Gln1225Lys
NM_001845.6:c.3865C>A MANE Select NP_001836.3:p.Gln1289Lys
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