Canonical Allele Identifier: CA10070600

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 284937
• ClinVar RCV Id: RCV000325281 ; RCV001471056
• dbSNP Id: rs777017599
• ExAC: 21:47420665 C / T
• gnomAD v2: 21-47420665-C-T
• gnomAD v3: 21-46000751-C-T
• gnomAD v4: 21-46000751-C-T
• MyVariant Identifiers: chr21:g.47420665C>T (hg19) ; chr21:g.46000751C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46000751C>T , CM000683.2:g.46000751C>T	GRCh38
NC_000021.8:g.47420665C>T , CM000683.1:g.47420665C>T	GRCh37
NC_000021.7:g.46245093C>T	NCBI36
NG_008674.1:g.24003C>T , LRG_475:g.24003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1814-8C>T MANE Select	ENSP00000355180.3:n.1814-8C>T
ENST00000361866.7:c.1814-8C>T	ENSP00000355180.3:n.1814-8C>T
ENST00000466285.1:n.331-8C>T
ENST00000612273.1:c.1816+381C>T	ENSP00000483630.1:n.1816+381C>T
NM_001848.2:c.1814-8C>T , LRG_475t1:c.1814-8C>T	NP_001839.2:n.1814-8C>T
NM_001848.3:c.1814-8C>T MANE Select	NP_001839.2:n.1814-8C>T