Canonical Allele Identifier: CA2577628914
Gene: COL6A1 HGNC NCBI

Linked Data

gnomAD v4: 21-46001203-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001203G>C , CM000683.2:g.46001203G>C GRCh38
NC_000021.8:g.47421117G>C , CM000683.1:g.47421117G>C GRCh37
NC_000021.7:g.46245545G>C NCBI36
NG_008674.1:g.24455G>C , LRG_475:g.24455G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000463060.6:n.222-50G>C
ENST00000361866.8:c.1823-50G>C MANE Select ENSP00000355180.3:n.1823-50G>C
ENST00000361866.7:c.1823-50G>C ENSP00000355180.3:n.1823-50G>C
ENST00000463060.5:n.222-50G>C
ENST00000498614.5:n.7G>C
ENST00000612273.1:c.1817-50G>C ENSP00000483630.1:n.1817-50G>C
NM_001848.2:c.1823-50G>C , LRG_475t1:c.1823-50G>C NP_001839.2:n.1823-50G>C
NM_001848.3:c.1823-50G>C MANE Select NP_001839.2:n.1823-50G>C
Search 100 bp 5'
Search 100 bp 3'