Canonical Allele Identifier: CA2654956264
Gene: COL6A1 HGNC NCBI

Linked Data

gnomAD v4: 21-45984220-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984220T>C , CM000683.2:g.45984220T>C GRCh38
NC_000021.8:g.47404134T>C , CM000683.1:g.47404134T>C GRCh37
NC_000021.7:g.46228562T>C NCBI36
NG_008674.1:g.7472T>C , LRG_475:g.7472T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.228-49T>C MANE Select ENSP00000355180.3:n.228-49T>C
ENST00000361866.7:c.228-49T>C ENSP00000355180.3:n.228-49T>C
ENST00000612273.1:c.228-49T>C ENSP00000483630.1:n.228-49T>C
NM_001848.2:c.228-49T>C , LRG_475t1:c.228-49T>C NP_001839.2:n.228-49T>C
NM_001848.3:c.228-49T>C MANE Select NP_001839.2:n.228-49T>C
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