Canonical Allele Identifier: CA2654959086
Gene: COL6A1 HGNC NCBI

Linked Data

gnomAD v4: 21-46001193-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001193G>T , CM000683.2:g.46001193G>T GRCh38
NC_000021.8:g.47421107G>T , CM000683.1:g.47421107G>T GRCh37
NC_000021.7:g.46245535G>T NCBI36
NG_008674.1:g.24445G>T , LRG_475:g.24445G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000463060.6:n.221+42G>T
ENST00000361866.8:c.1823-60G>T MANE Select ENSP00000355180.3:n.1823-60G>T
ENST00000361866.7:c.1823-60G>T ENSP00000355180.3:n.1823-60G>T
ENST00000463060.5:n.221+42G>T
ENST00000612273.1:c.1817-60G>T ENSP00000483630.1:n.1817-60G>T
NM_001848.2:c.1823-60G>T , LRG_475t1:c.1823-60G>T NP_001839.2:n.1823-60G>T
NM_001848.3:c.1823-60G>T MANE Select NP_001839.2:n.1823-60G>T
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