Canonical Allele Identifier: CA295255

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 162529
• ClinVar RCV Id: RCV000149919 ; RCV000301615 ; RCV000762044 ; RCV001086949 ; RCV001265660
• dbSNP Id: rs140534207
• ExAC: 21:47423475 A / G
• gnomAD v2: 21-47423475-A-G
• gnomAD v3: 21-46003561-A-G
• gnomAD v4: 21-46003561-A-G
• MyVariant Identifiers: chr21:g.47423475A>G (hg19) ; chr21:g.46003561A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46003561A>G , CM000683.2:g.46003561A>G	GRCh38
NC_000021.8:g.47423475A>G , CM000683.1:g.47423475A>G	GRCh37
NC_000021.7:g.46247903A>G	NCBI36
NG_008674.1:g.26813A>G , LRG_475:g.26813A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.1034A>G
ENST00000612273.2:c.761A>G
ENST00000682634.1:c.761A>G
ENST00000361866.8:c.2635A>G MANE Select	ENSP00000355180.3:p.Ser879Gly
ENST00000361866.7:c.2635A>G	ENSP00000355180.3:p.Ser879Gly
ENST00000486023.1:n.423A>G
ENST00000498614.5:n.869A>G
ENST00000612273.1:c.2629A>G	ENSP00000483630.1:p.Ser877Gly
NM_001848.2:c.2635A>G , LRG_475t1:c.2635A>G	NP_001839.2:p.Ser879Gly
NM_001848.3:c.2635A>G MANE Select	NP_001839.2:p.Ser879Gly