Canonical Allele Identifier: CA410533518
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 595689
ClinVar RCV Id: RCV000731310 RCV001373094
dbSNP Id: rs1237092252
gnomAD v2: 21-47421242-T-C
gnomAD v3: 21-46001328-T-C
gnomAD v4: 21-46001328-T-C
MyVariant Identifiers: chr21:g.47421242T>C (hg19) chr21:g.46001328T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001328T>C , CM000683.2:g.46001328T>C GRCh38
NC_000021.8:g.47421242T>C , CM000683.1:g.47421242T>C GRCh37
NC_000021.7:g.46245670T>C NCBI36
NG_008674.1:g.24580T>C , LRG_475:g.24580T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.297T>C
ENST00000612273.2:c.24T>C
ENST00000682634.1:c.24T>C
ENST00000361866.8:c.1898T>C MANE Select ENSP00000355180.3:p.Ile633Thr
ENST00000361866.7:c.1898T>C ENSP00000355180.3:p.Ile633Thr
ENST00000463060.5:n.297T>C
ENST00000498614.5:n.132T>C
ENST00000612273.1:c.1892T>C ENSP00000483630.1:p.Ile631Thr
NM_001848.2:c.1898T>C , LRG_475t1:c.1898T>C NP_001839.2:p.Ile633Thr
NM_001848.3:c.1898T>C MANE Select NP_001839.2:p.Ile633Thr
Search 100 bp 5'
Search 100 bp 3'