Canonical Allele Identifier: CA321975321
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs558827467
gnomAD v4: 21-46001186-G-C
MyVariant Identifiers: chr21:g.47421100G>C (hg19) chr21:g.46001186G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001186G>C , CM000683.2:g.46001186G>C GRCh38
NC_000021.8:g.47421100G>C , CM000683.1:g.47421100G>C GRCh37
NC_000021.7:g.46245528G>C NCBI36
NG_008674.1:g.24438G>C , LRG_475:g.24438G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.221+35G>C
ENST00000361866.8:c.1823-67G>C MANE Select ENSP00000355180.3:n.1823-67G>C
ENST00000361866.7:c.1823-67G>C ENSP00000355180.3:n.1823-67G>C
ENST00000463060.5:n.221+35G>C
ENST00000612273.1:c.1817-67G>C ENSP00000483630.1:n.1817-67G>C
NM_001848.2:c.1823-67G>C , LRG_475t1:c.1823-67G>C NP_001839.2:n.1823-67G>C
NM_001848.3:c.1823-67G>C MANE Select NP_001839.2:n.1823-67G>C
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