Canonical Allele Identifier: CA10606879
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 290695
ClinVar RCV Id: RCV000396948 RCV001850475
dbSNP Id: rs886044535
COSMIC: COSM1201948
MyVariant Identifiers: chr21:g.47410199G>A (hg19) chr21:g.45990285G>A (hg38)
PubMed: PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990285G>A , CM000683.2:g.45990285G>A GRCh38
NC_000021.8:g.47410199G>A , CM000683.1:g.47410199G>A GRCh37
NC_000021.7:g.46234627G>A NCBI36
NG_008674.1:g.13537G>A , LRG_475:g.13537G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.957+1G>A MANE Select ENSP00000355180.3:n.957+1G>A
ENST00000361866.7:c.957+1G>A ENSP00000355180.3:n.957+1G>A
ENST00000612273.1:c.957+1G>A ENSP00000483630.1:n.957+1G>A
NM_001848.2:c.957+1G>A , LRG_475t1:c.957+1G>A NP_001839.2:n.957+1G>A
NM_001848.3:c.957+1G>A MANE Select NP_001839.2:n.957+1G>A
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