Canonical Allele Identifier: CA321954847
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs948395131
gnomAD v3: 21-45984217-C-T
gnomAD v4: 21-45984217-C-T
MyVariant Identifiers: chr21:g.47404131C>T (hg19) chr21:g.45984217C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984217C>T , CM000683.2:g.45984217C>T GRCh38
NC_000021.8:g.47404131C>T , CM000683.1:g.47404131C>T GRCh37
NC_000021.7:g.46228559C>T NCBI36
NG_008674.1:g.7469C>T , LRG_475:g.7469C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.228-52C>T MANE Select ENSP00000355180.3:n.228-52C>T
ENST00000361866.7:c.228-52C>T ENSP00000355180.3:n.228-52C>T
ENST00000612273.1:c.228-52C>T ENSP00000483630.1:n.228-52C>T
NM_001848.2:c.228-52C>T , LRG_475t1:c.228-52C>T NP_001839.2:n.228-52C>T
NM_001848.3:c.228-52C>T MANE Select NP_001839.2:n.228-52C>T
Search 100 bp 5'
Search 100 bp 3'