Canonical Allele Identifier: CA410533702
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1315291
ClinVar RCV Id: RCV001774541
dbSNP Id: rs398123634
gnomAD v3: 21-46001361-G-C
gnomAD v4: 21-46001361-G-C
MyVariant Identifiers: chr21:g.47421275G>C (hg19) chr21:g.46001361G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001361G>C , CM000683.2:g.46001361G>C GRCh38
NC_000021.8:g.47421275G>C , CM000683.1:g.47421275G>C GRCh37
NC_000021.7:g.46245703G>C NCBI36
NG_008674.1:g.24613G>C , LRG_475:g.24613G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.330G>C
ENST00000612273.2:c.57G>C
ENST00000682634.1:c.57G>C
ENST00000361866.8:c.1931G>C MANE Select ENSP00000355180.3:p.Arg644Pro
ENST00000361866.7:c.1931G>C ENSP00000355180.3:p.Arg644Pro
ENST00000463060.5:n.330G>C
ENST00000498614.5:n.165G>C
ENST00000612273.1:c.1925G>C ENSP00000483630.1:p.Arg642Pro
NM_001848.2:c.1931G>C , LRG_475t1:c.1931G>C NP_001839.2:p.Arg644Pro
NM_001848.3:c.1931G>C MANE Select NP_001839.2:p.Arg644Pro
Search 100 bp 5'
Search 100 bp 3'