Canonical Allele Identifier: CA10070698

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 284834
• ClinVar RCV Id: RCV000401866 ; RCV001086720
• dbSNP Id: rs184484842
• ExAC: 21:47421871 A / G
• gnomAD v2: 21-47421871-A-G
• gnomAD v3: 21-46001957-A-G
• gnomAD v4: 21-46001957-A-G
• MyVariant Identifiers: chr21:g.47421871A>G (hg19) ; chr21:g.46001957A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001957A>G , CM000683.2:g.46001957A>G	GRCh38
NC_000021.8:g.47421871A>G , CM000683.1:g.47421871A>G	GRCh37
NC_000021.7:g.46246299A>G	NCBI36
NG_008674.1:g.25209A>G , LRG_475:g.25209A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.356-4A>G
ENST00000612273.2:c.83-4A>G
ENST00000682634.1:c.83-4A>G
ENST00000361866.8:c.1957-4A>G MANE Select	ENSP00000355180.3:n.1957-4A>G
ENST00000361866.7:c.1957-4A>G	ENSP00000355180.3:n.1957-4A>G
ENST00000463060.5:n.356-4A>G
ENST00000498614.5:n.191-4A>G
ENST00000612273.1:c.1951-4A>G	ENSP00000483630.1:n.1951-4A>G
NM_001848.2:c.1957-4A>G , LRG_475t1:c.1957-4A>G	NP_001839.2:n.1957-4A>G
NM_001848.3:c.1957-4A>G MANE Select	NP_001839.2:n.1957-4A>G