Canonical Allele Identifier: CA10070363

Gene: COL6A1

Linked Data

• dbSNP Id: rs201372902
• ExAC: 21:47417702 A / G
• gnomAD v2: 21-47417702-A-G
• gnomAD v3: 21-45997788-A-G
• gnomAD v4: 21-45997788-A-G
• MyVariant Identifiers: chr21:g.47417702A>G (hg19) ; chr21:g.45997788A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45997788A>G , CM000683.2:g.45997788A>G	GRCh38
NC_000021.8:g.47417702A>G , CM000683.1:g.47417702A>G	GRCh37
NC_000021.7:g.46242130A>G	NCBI36
NG_008674.1:g.21040A>G , LRG_475:g.21040A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683550.1:n.299+26A>G
ENST00000361866.8:c.1524+26A>G MANE Select	ENSP00000355180.3:n.1524+26A>G
ENST00000361866.7:c.1524+26A>G	ENSP00000355180.3:n.1524+26A>G
ENST00000612273.1:c.1524+26A>G	ENSP00000483630.1:n.1524+26A>G
NM_001848.2:c.1524+26A>G , LRG_475t1:c.1524+26A>G	NP_001839.2:n.1524+26A>G
NM_001848.3:c.1524+26A>G MANE Select	NP_001839.2:n.1524+26A>G