Canonical Allele Identifier: CA10071120

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 286582
• ClinVar RCV Id: RCV000371573 ; RCV000792846 ; RCV002519239
• dbSNP Id: rs751518356
• ExAC: 21:47423896 A / G
• gnomAD v2: 21-47423896-A-G
• gnomAD v3: 21-46003982-A-G
• gnomAD v4: 21-46003982-A-G
• MyVariant Identifiers: chr21:g.47423896A>G (hg19) ; chr21:g.46003982A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46003982A>G , CM000683.2:g.46003982A>G	GRCh38
NC_000021.8:g.47423896A>G , CM000683.1:g.47423896A>G	GRCh37
NC_000021.7:g.46248324A>G	NCBI36
NG_008674.1:g.27234A>G , LRG_475:g.27234A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.1455A>G
ENST00000612273.2:c.1182A>G
ENST00000682634.1:c.1057+125A>G
ENST00000361866.8:c.3056A>G MANE Select	ENSP00000355180.3:p.Gln1019Arg
ENST00000361866.7:c.3056A>G	ENSP00000355180.3:p.Gln1019Arg
ENST00000486023.1:n.844A>G
ENST00000498614.5:n.1290A>G
ENST00000612273.1:c.3050A>G	ENSP00000483630.1:p.Gln1017Arg
NM_001848.2:c.3056A>G , LRG_475t1:c.3056A>G	NP_001839.2:p.Gln1019Arg
NM_001848.3:c.3056A>G MANE Select	NP_001839.2:p.Gln1019Arg