Canonical Allele Identifier: CA321960276

Gene: COL6A1

Linked Data

• dbSNP Id: rs554847646
• gnomAD v2: 21-47407702-G-T
• gnomAD v3: 21-45987788-G-T
• gnomAD v4: 21-45987788-G-T
• MyVariant Identifiers: chr21:g.47407702G>T (hg19) ; chr21:g.47407702_47407703delinsTC (hg19) ; chr21:g.45987788G>T (hg38) ; chr21:g.45987788_45987789delinsTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987788G>T , CM000683.2:g.45987788G>T	GRCh38
NC_000021.8:g.47407702G>T , CM000683.1:g.47407702G>T	GRCh37
NC_000021.7:g.46232130G>T	NCBI36
NG_008674.1:g.11040G>T , LRG_475:g.11040G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+134G>T MANE Select	ENSP00000355180.3:n.804+134G>T
ENST00000361866.7:c.804+134G>T	ENSP00000355180.3:n.804+134G>T
ENST00000612273.1:c.804+134G>T	ENSP00000483630.1:n.804+134G>T
NM_001848.2:c.804+134G>T , LRG_475t1:c.804+134G>T	NP_001839.2:n.804+134G>T
NM_001848.3:c.804+134G>T MANE Select	NP_001839.2:n.804+134G>T