Canonical Allele Identifier: CA388661743
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110822005T>G (hg19) chr13:g.110169658T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169658T>G , CM000675.2:g.110169658T>G GRCh38
NC_000013.10:g.110822005T>G , CM000675.1:g.110822005T>G GRCh37
NC_000013.9:g.109620006T>G NCBI36
NG_011544.2:g.142492A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3847A>C MANE Select ENSP00000364979.4:p.Lys1283Gln
ENST00000650424.1:c.3A>C
ENST00000375820.8:c.3847A>C ENSP00000364979.4:p.Lys1283Gln
NM_001845.5:c.3847A>C NP_001836.3:p.Lys1283Gln
XM_011521048.1:c.3655A>C XP_011519350.1:p.Lys1219Gln
XM_011521048.2:c.3655A>C XP_011519350.1:p.Lys1219Gln
NM_001845.6:c.3847A>C MANE Select NP_001836.3:p.Lys1283Gln
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