Canonical Allele Identifier: CA388661698
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110821986T>A (hg19) chr13:g.110169639T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169639T>A , CM000675.2:g.110169639T>A GRCh38
NC_000013.10:g.110821986T>A , CM000675.1:g.110821986T>A GRCh37
NC_000013.9:g.109619987T>A NCBI36
NG_011544.2:g.142511A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3866A>T MANE Select ENSP00000364979.4:p.Gln1289Leu
ENST00000650424.1:c.22A>T
ENST00000375820.8:c.3866A>T ENSP00000364979.4:p.Gln1289Leu
NM_001845.5:c.3866A>T NP_001836.3:p.Gln1289Leu
XM_011521048.1:c.3674A>T XP_011519350.1:p.Gln1225Leu
XM_011521048.2:c.3674A>T XP_011519350.1:p.Gln1225Leu
NM_001845.6:c.3866A>T MANE Select NP_001836.3:p.Gln1289Leu
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