Canonical Allele Identifier: CA2623673266
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v4: 13-110173843-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173843A>G , CM000675.2:g.110173843A>G GRCh38
NC_000013.10:g.110826190A>G , CM000675.1:g.110826190A>G GRCh37
NC_000013.9:g.109624191A>G NCBI36
NG_011544.2:g.138307T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3505+57T>C MANE Select ENSP00000364979.4:n.3505+57T>C
ENST00000375820.8:c.3505+57T>C ENSP00000364979.4:n.3505+57T>C
NM_001845.5:c.3505+57T>C NP_001836.3:n.3505+57T>C
XM_011521048.1:c.3313+57T>C XP_011519350.1:n.3313+57T>C
XM_011521048.2:c.3313+57T>C XP_011519350.1:n.3313+57T>C
NM_001845.6:c.3505+57T>C MANE Select NP_001836.3:n.3505+57T>C
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