Canonical Allele Identifier: CA10653689

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 340307
• ClinVar RCV Id: RCV000289966 ; RCV001452521
• dbSNP Id: rs886057149
• gnomAD v3: 21-45987490-C-T
• gnomAD v4: 21-45987490-C-T
• MyVariant Identifiers: chr21:g.47407404C>T (hg19) ; chr21:g.45987490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987490C>T , CM000683.2:g.45987490C>T	GRCh38
NC_000021.8:g.47407404C>T , CM000683.1:g.47407404C>T	GRCh37
NC_000021.7:g.46231832C>T	NCBI36
NG_008674.1:g.10742C>T , LRG_475:g.10742C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.739-9C>T MANE Select	ENSP00000355180.3:n.739-9C>T
ENST00000361866.7:c.739-9C>T	ENSP00000355180.3:n.739-9C>T
ENST00000492851.1:n.382C>T
ENST00000612273.1:c.739-9C>T	ENSP00000483630.1:n.739-9C>T
NM_001848.2:c.739-9C>T , LRG_475t1:c.739-9C>T	NP_001839.2:n.739-9C>T
NM_001848.3:c.739-9C>T MANE Select	NP_001839.2:n.739-9C>T