Canonical Allele Identifier: CA321975521
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1097966
ClinVar RCV Id: RCV001419729
dbSNP Id: rs867670442
gnomAD v3: 21-46001344-C-T
gnomAD v4: 21-46001344-C-T
MyVariant Identifiers: chr21:g.47421258C>T (hg19) chr21:g.46001344C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001344C>T , CM000683.2:g.46001344C>T GRCh38
NC_000021.8:g.47421258C>T , CM000683.1:g.47421258C>T GRCh37
NC_000021.7:g.46245686C>T NCBI36
NG_008674.1:g.24596C>T , LRG_475:g.24596C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.313C>T
ENST00000612273.2:c.40C>T
ENST00000682634.1:c.40C>T
ENST00000361866.8:c.1914C>T MANE Select ENSP00000355180.3:p.Val638=
ENST00000361866.7:c.1914C>T ENSP00000355180.3:p.Val638=
ENST00000463060.5:n.313C>T
ENST00000498614.5:n.148C>T
ENST00000612273.1:c.1908C>T ENSP00000483630.1:p.Val636=
NM_001848.2:c.1914C>T , LRG_475t1:c.1914C>T NP_001839.2:p.Val638=
NM_001848.3:c.1914C>T MANE Select NP_001839.2:p.Val638=
Search 100 bp 5'
Search 100 bp 3'