Canonical Allele Identifier: CA321959993
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs986348956
gnomAD v3: 21-45987545-C-A
gnomAD v4: 21-45987545-C-A
MyVariant Identifiers: chr21:g.47407459C>A (hg19) chr21:g.45987545C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45987545C>A , CM000683.2:g.45987545C>A GRCh38
NC_000021.8:g.47407459C>A , CM000683.1:g.47407459C>A GRCh37
NC_000021.7:g.46231887C>A NCBI36
NG_008674.1:g.10797C>A , LRG_475:g.10797C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.759+26C>A MANE Select ENSP00000355180.3:n.759+26C>A
ENST00000361866.7:c.759+26C>A ENSP00000355180.3:n.759+26C>A
ENST00000492851.1:n.411+26C>A
ENST00000612273.1:c.759+26C>A ENSP00000483630.1:n.759+26C>A
NM_001848.2:c.759+26C>A , LRG_475t1:c.759+26C>A NP_001839.2:n.759+26C>A
NM_001848.3:c.759+26C>A MANE Select NP_001839.2:n.759+26C>A
Search 100 bp 5'
Search 100 bp 3'