Canonical Allele Identifier: CA10070496

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 289470
• ClinVar RCV Id: RCV000286257 ; RCV000812322
• dbSNP Id: rs751040647
• ExAC: 21:47419104 A / C
• gnomAD v2: 21-47419104-A-C
• gnomAD v3: 21-45999190-A-C
• gnomAD v4: 21-45999190-A-C
• MyVariant Identifiers: chr21:g.47419104A>C (hg19) ; chr21:g.45999190A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45999190A>C , CM000683.2:g.45999190A>C	GRCh38
NC_000021.8:g.47419104A>C , CM000683.1:g.47419104A>C	GRCh37
NC_000021.7:g.46243532A>C	NCBI36
NG_008674.1:g.22442A>C , LRG_475:g.22442A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1712A>C MANE Select	ENSP00000355180.3:p.Lys571Thr
ENST00000361866.7:c.1712A>C	ENSP00000355180.3:p.Lys571Thr
ENST00000612273.1:c.1712A>C	ENSP00000483630.1:p.Lys571Thr
NM_001848.2:c.1712A>C , LRG_475t1:c.1712A>C	NP_001839.2:p.Lys571Thr
NM_001848.3:c.1712A>C MANE Select	NP_001839.2:p.Lys571Thr