Canonical Allele Identifier: CA410528695
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1491140
ClinVar RCV Id: RCV002009991
dbSNP Id: rs117340427
gnomAD v4: 21-45997713-C-A
MyVariant Identifiers: chr21:g.47417627C>A (hg19) chr21:g.45997713C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45997713C>A , CM000683.2:g.45997713C>A GRCh38
NC_000021.8:g.47417627C>A , CM000683.1:g.47417627C>A GRCh37
NC_000021.7:g.46242055C>A NCBI36
NG_008674.1:g.20965C>A , LRG_475:g.20965C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000683550.1:n.250C>A
ENST00000361866.8:c.1475C>A MANE Select ENSP00000355180.3:p.Ala492Asp
ENST00000361866.7:c.1475C>A ENSP00000355180.3:p.Ala492Asp
ENST00000612273.1:c.1475C>A ENSP00000483630.1:p.Ala492Asp
NM_001848.2:c.1475C>A , LRG_475t1:c.1475C>A NP_001839.2:p.Ala492Asp
NM_001848.3:c.1475C>A MANE Select NP_001839.2:p.Ala492Asp
Search 100 bp 5'
Search 100 bp 3'