Canonical Allele Identifier: CA221800
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93894
ClinVar RCV Id: RCV000079833 RCV000173748 RCV001251002 RCV001814048 RCV001266306
dbSNP Id: rs121912939
COSMIC: COSM5785962
MyVariant Identifiers: chr21:g.47409531G>A (hg19) chr21:g.45989617G>A (hg38)
PubMed: PMID:27708273
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45989617G>A , CM000683.2:g.45989617G>A GRCh38
NC_000021.8:g.47409531G>A , CM000683.1:g.47409531G>A GRCh37
NC_000021.7:g.46233959G>A NCBI36
NG_008674.1:g.12869G>A , LRG_475:g.12869G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.868G>A MANE Select ENSP00000355180.3:p.Gly290Arg
ENST00000361866.7:c.868G>A ENSP00000355180.3:p.Gly290Arg
ENST00000612273.1:c.868G>A ENSP00000483630.1:p.Gly290Arg
NM_001848.2:c.868G>A , LRG_475t1:c.868G>A NP_001839.2:p.Gly290Arg
NM_001848.3:c.868G>A MANE Select NP_001839.2:p.Gly290Arg
Search 100 bp 5'
Search 100 bp 3'