Canonical Allele Identifier: CA10069752

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 500670
• ClinVar RCV Id: RCV000594154 ; RCV001235823 ; RCV004024795
• dbSNP Id: rs148364156
• ExAC: 21:47407553 C / T
• gnomAD v2: 21-47407553-C-T
• gnomAD v3: 21-45987639-C-T
• gnomAD v4: 21-45987639-C-T
• COSMIC: COSM1243174
• MyVariant Identifiers: chr21:g.47407553C>T (hg19) ; chr21:g.45987639C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987639C>T , CM000683.2:g.45987639C>T	GRCh38
NC_000021.8:g.47407553C>T , CM000683.1:g.47407553C>T	GRCh37
NC_000021.7:g.46231981C>T	NCBI36
NG_008674.1:g.10891C>T , LRG_475:g.10891C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.789C>T MANE Select	ENSP00000355180.3:p.Gly263=
ENST00000361866.7:c.789C>T	ENSP00000355180.3:p.Gly263=
ENST00000612273.1:c.789C>T	ENSP00000483630.1:p.Gly263=
NM_001848.2:c.789C>T , LRG_475t1:c.789C>T	NP_001839.2:p.Gly263=
NM_001848.3:c.789C>T MANE Select	NP_001839.2:p.Gly263=