Canonical Allele Identifier: CA10653065

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 340315
• ClinVar RCV Id: RCV000388432 ; RCV003631117
• dbSNP Id: rs763249073
• gnomAD v2: 21-47412104-C-G
• gnomAD v3: 21-45992190-C-G
• gnomAD v4: 21-45992190-C-G
• MyVariant Identifiers: chr21:g.47412104C>G (hg19) ; chr21:g.45992190C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45992190C>G , CM000683.2:g.45992190C>G	GRCh38
NC_000021.8:g.47412104C>G , CM000683.1:g.47412104C>G	GRCh37
NC_000021.7:g.46236532C>G	NCBI36
NG_008674.1:g.15442C>G , LRG_475:g.15442C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1209C>G MANE Select	ENSP00000355180.3:p.Pro403=
ENST00000361866.7:c.1209C>G	ENSP00000355180.3:p.Pro403=
ENST00000612273.1:c.1209C>G	ENSP00000483630.1:p.Pro403=
NM_001848.2:c.1209C>G , LRG_475t1:c.1209C>G	NP_001839.2:p.Pro403=
NM_001848.3:c.1209C>G MANE Select	NP_001839.2:p.Pro403=