Canonical Allele Identifier: CA512711077
Gene: COL6A1 HGNC NCBI

Linked Data

gnomAD v4: 21-45987616-A-C
MyVariant Identifiers: chr21:g.47407530A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45987616A>C , CM000683.2:g.45987616A>C GRCh38
NC_000021.8:g.47407530A>C , CM000683.1:g.47407530A>C GRCh37
NC_000021.7:g.46231958A>C NCBI36
NG_008674.1:g.10868A>C , LRG_475:g.10868A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.766A>C MANE Select ENSP00000355180.3:p.Arg256=
ENST00000361866.7:c.766A>C ENSP00000355180.3:p.Arg256=
ENST00000492851.1:n.418A>C
ENST00000612273.1:c.766A>C ENSP00000483630.1:p.Arg256=
NM_001848.2:c.766A>C , LRG_475t1:c.766A>C NP_001839.2:p.Arg256=
NM_001848.3:c.766A>C MANE Select NP_001839.2:p.Arg256=
Search 100 bp 5'
Search 100 bp 3'