Canonical Allele Identifier: CA10069550

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 1632506
• ClinVar RCV Id: RCV002119071
• dbSNP Id: rs377140588
• ExAC: 21:47404342 C / A
• gnomAD v2: 21-47404342-C-A
• gnomAD v3: 21-45984428-C-A
• gnomAD v4: 21-45984428-C-A
• MyVariant Identifiers: chr21:g.47404342C>A (hg19) ; chr21:g.45984428C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984428C>A , CM000683.2:g.45984428C>A	GRCh38
NC_000021.8:g.47404342C>A , CM000683.1:g.47404342C>A	GRCh37
NC_000021.7:g.46228770C>A	NCBI36
NG_008674.1:g.7680C>A , LRG_475:g.7680C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.387C>A MANE Select	ENSP00000355180.3:p.Thr129=
ENST00000361866.7:c.387C>A	ENSP00000355180.3:p.Thr129=
ENST00000612273.1:c.387C>A	ENSP00000483630.1:p.Thr129=
NM_001848.2:c.387C>A , LRG_475t1:c.387C>A	NP_001839.2:p.Thr129=
NM_001848.3:c.387C>A MANE Select	NP_001839.2:p.Thr129=