Canonical Allele Identifier: CA2580098970
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2142029
ClinVar RCV Id: RCV003074100
gnomAD v4: 21-45990835-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990835C>G , CM000683.2:g.45990835C>G GRCh38
NC_000021.8:g.47410749C>G , CM000683.1:g.47410749C>G GRCh37
NC_000021.7:g.46235177C>G NCBI36
NG_008674.1:g.14087C>G , LRG_475:g.14087C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.1056+9C>G MANE Select ENSP00000355180.3:n.1056+9C>G
ENST00000361866.7:c.1056+9C>G ENSP00000355180.3:n.1056+9C>G
ENST00000612273.1:c.1056+9C>G ENSP00000483630.1:n.1056+9C>G
NM_001848.2:c.1056+9C>G , LRG_475t1:c.1056+9C>G NP_001839.2:n.1056+9C>G
NM_001848.3:c.1056+9C>G MANE Select NP_001839.2:n.1056+9C>G
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