Canonical Allele Identifier: CA2654959085
Gene: COL6A1 HGNC NCBI

Linked Data

gnomAD v4: 21-46001190-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001190A>G , CM000683.2:g.46001190A>G GRCh38
NC_000021.8:g.47421104A>G , CM000683.1:g.47421104A>G GRCh37
NC_000021.7:g.46245532A>G NCBI36
NG_008674.1:g.24442A>G , LRG_475:g.24442A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000463060.6:n.221+39A>G
ENST00000361866.8:c.1823-63A>G MANE Select ENSP00000355180.3:n.1823-63A>G
ENST00000361866.7:c.1823-63A>G ENSP00000355180.3:n.1823-63A>G
ENST00000463060.5:n.221+39A>G
ENST00000612273.1:c.1817-63A>G ENSP00000483630.1:n.1817-63A>G
NM_001848.2:c.1823-63A>G , LRG_475t1:c.1823-63A>G NP_001839.2:n.1823-63A>G
NM_001848.3:c.1823-63A>G MANE Select NP_001839.2:n.1823-63A>G
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