Canonical Allele Identifier: CA246045

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 197731
• ClinVar RCV Id: RCV000178849 ; RCV001243310 ; RCV004020133
• dbSNP Id: rs749628937
• ExAC: 21:47406864 C / T
• gnomAD v2: 21-47406864-C-T
• gnomAD v3: 21-45986950-C-T
• gnomAD v4: 21-45986950-C-T
• MyVariant Identifiers: chr21:g.47406864C>T (hg19) ; chr21:g.45986950C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45986950C>T , CM000683.2:g.45986950C>T	GRCh38
NC_000021.8:g.47406864C>T , CM000683.1:g.47406864C>T	GRCh37
NC_000021.7:g.46231292C>T	NCBI36
NG_008674.1:g.10202C>T , LRG_475:g.10202C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.595C>T MANE Select	ENSP00000355180.3:p.Arg199Cys
ENST00000361866.7:c.595C>T	ENSP00000355180.3:p.Arg199Cys
ENST00000612273.1:c.595C>T	ENSP00000483630.1:p.Arg199Cys
NM_001848.2:c.595C>T , LRG_475t1:c.595C>T	NP_001839.2:p.Arg199Cys
NM_001848.3:c.595C>T MANE Select	NP_001839.2:p.Arg199Cys