Canonical Allele Identifier: CA388660664
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110818627G>A (hg19) chr13:g.110166280G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110166280G>A , CM000675.2:g.110166280G>A GRCh38
NC_000013.10:g.110818627G>A , CM000675.1:g.110818627G>A GRCh37
NC_000013.9:g.109616628G>A NCBI36
NG_011544.2:g.145870C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3973C>T MANE Select ENSP00000364979.4:p.Gln1325Ter
ENST00000650424.1:c.129C>T
ENST00000375820.8:c.3973C>T ENSP00000364979.4:p.Gln1325Ter
NM_001845.5:c.3973C>T NP_001836.3:p.Gln1325Ter
XM_011521048.1:c.3781C>T XP_011519350.1:p.Gln1261Ter
XM_011521048.2:c.3781C>T XP_011519350.1:p.Gln1261Ter
NM_001845.6:c.3973C>T MANE Select NP_001836.3:p.Gln1325Ter
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