Canonical Allele Identifier: CA10069599

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 283031
• ClinVar RCV Id: RCV000396281 ; RCV001081124 ; RCV001140700
• dbSNP Id: rs756141940
• ExAC: 21:47406550 A / G
• gnomAD v2: 21-47406550-A-G
• gnomAD v3: 21-45986636-A-G
• gnomAD v4: 21-45986636-A-G
• MyVariant Identifiers: chr21:g.47406550A>G (hg19) ; chr21:g.45986636A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45986636A>G , CM000683.2:g.45986636A>G	GRCh38
NC_000021.8:g.47406550A>G , CM000683.1:g.47406550A>G	GRCh37
NC_000021.7:g.46230978A>G	NCBI36
NG_008674.1:g.9888A>G , LRG_475:g.9888A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.539A>G MANE Select	ENSP00000355180.3:p.Lys180Arg
ENST00000361866.7:c.539A>G	ENSP00000355180.3:p.Lys180Arg
ENST00000612273.1:c.539A>G	ENSP00000483630.1:p.Lys180Arg
NM_001848.2:c.539A>G , LRG_475t1:c.539A>G	NP_001839.2:p.Lys180Arg
NM_001848.3:c.539A>G MANE Select	NP_001839.2:p.Lys180Arg