Canonical Allele Identifier: CA2623673267
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v4: 13-110173844-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173844G>C , CM000675.2:g.110173844G>C GRCh38
NC_000013.10:g.110826191G>C , CM000675.1:g.110826191G>C GRCh37
NC_000013.9:g.109624192G>C NCBI36
NG_011544.2:g.138306C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3505+56C>G MANE Select ENSP00000364979.4:n.3505+56C>G
ENST00000375820.8:c.3505+56C>G ENSP00000364979.4:n.3505+56C>G
NM_001845.5:c.3505+56C>G NP_001836.3:n.3505+56C>G
XM_011521048.1:c.3313+56C>G XP_011519350.1:n.3313+56C>G
XM_011521048.2:c.3313+56C>G XP_011519350.1:n.3313+56C>G
NM_001845.6:c.3505+56C>G MANE Select NP_001836.3:n.3505+56C>G
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