Canonical Allele Identifier: CA10069517

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 284567
• ClinVar RCV Id: RCV000375024 ; RCV000694699
• dbSNP Id: rs145811554
• ExAC: 21:47404240 C / G
• gnomAD v2: 21-47404240-C-G
• gnomAD v3: 21-45984326-C-G
• gnomAD v4: 21-45984326-C-G
• MyVariant Identifiers: chr21:g.47404240C>G (hg19) ; chr21:g.45984326C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984326C>G , CM000683.2:g.45984326C>G	GRCh38
NC_000021.8:g.47404240C>G , CM000683.1:g.47404240C>G	GRCh37
NC_000021.7:g.46228668C>G	NCBI36
NG_008674.1:g.7578C>G , LRG_475:g.7578C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.285C>G MANE Select	ENSP00000355180.3:p.Asp95Glu
ENST00000361866.7:c.285C>G	ENSP00000355180.3:p.Asp95Glu
ENST00000612273.1:c.285C>G	ENSP00000483630.1:p.Asp95Glu
NM_001848.2:c.285C>G , LRG_475t1:c.285C>G	NP_001839.2:p.Asp95Glu
NM_001848.3:c.285C>G MANE Select	NP_001839.2:p.Asp95Glu