Canonical Allele Identifier: CA321975334

Gene: COL6A1

Linked Data

• dbSNP Id: rs577168581
• gnomAD v3: 21-46001197-G-A
• gnomAD v4: 21-46001197-G-A
• MyVariant Identifiers: chr21:g.47421111G>A (hg19) ; chr21:g.46001197G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001197G>A , CM000683.2:g.46001197G>A	GRCh38
NC_000021.8:g.47421111G>A , CM000683.1:g.47421111G>A	GRCh37
NC_000021.7:g.46245539G>A	NCBI36
NG_008674.1:g.24449G>A , LRG_475:g.24449G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000463060.6:n.221+46G>A
ENST00000361866.8:c.1823-56G>A MANE Select	ENSP00000355180.3:n.1823-56G>A
ENST00000361866.7:c.1823-56G>A	ENSP00000355180.3:n.1823-56G>A
ENST00000463060.5:n.221+46G>A
ENST00000498614.5:n.1G>A
ENST00000612273.1:c.1817-56G>A	ENSP00000483630.1:n.1817-56G>A
NM_001848.2:c.1823-56G>A , LRG_475t1:c.1823-56G>A	NP_001839.2:n.1823-56G>A
NM_001848.3:c.1823-56G>A MANE Select	NP_001839.2:n.1823-56G>A