Canonical Allele Identifier: CA321975676

Gene: COL6A1

Linked Data

• dbSNP Id: rs935966970
• gnomAD v2: 21-47421379-T-G
• gnomAD v3: 21-46001465-T-G
• gnomAD v4: 21-46001465-T-G
• MyVariant Identifiers: chr21:g.47421379T>G (hg19) ; chr21:g.46001465T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001465T>G , CM000683.2:g.46001465T>G	GRCh38
NC_000021.8:g.47421379T>G , CM000683.1:g.47421379T>G	GRCh37
NC_000021.7:g.46245807T>G	NCBI36
NG_008674.1:g.24717T>G , LRG_475:g.24717T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.355+79T>G
ENST00000612273.2:c.82+79T>G
ENST00000682634.1:c.82+79T>G
ENST00000361866.8:c.1956+79T>G MANE Select	ENSP00000355180.3:n.1956+79T>G
ENST00000361866.7:c.1956+79T>G	ENSP00000355180.3:n.1956+79T>G
ENST00000463060.5:n.355+79T>G
ENST00000498614.5:n.190+79T>G
ENST00000612273.1:c.1950+79T>G	ENSP00000483630.1:n.1950+79T>G
NM_001848.2:c.1956+79T>G , LRG_475t1:c.1956+79T>G	NP_001839.2:n.1956+79T>G
NM_001848.3:c.1956+79T>G MANE Select	NP_001839.2:n.1956+79T>G