Canonical Allele Identifier: CA10070658
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 857240
ClinVar RCV Id: RCV001062877 RCV002555815 RCV003145321
dbSNP Id: rs764762208
ExAC: 21:47421284 G / A
gnomAD v2: 21-47421284-G-A
gnomAD v3: 21-46001370-G-A
gnomAD v4: 21-46001370-G-A
MyVariant Identifiers: chr21:g.47421284G>A (hg19) chr21:g.46001370G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001370G>A , CM000683.2:g.46001370G>A GRCh38
NC_000021.8:g.47421284G>A , CM000683.1:g.47421284G>A GRCh37
NC_000021.7:g.46245712G>A NCBI36
NG_008674.1:g.24622G>A , LRG_475:g.24622G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.339G>A
ENST00000612273.2:c.66G>A
ENST00000682634.1:c.66G>A
ENST00000361866.8:c.1940G>A MANE Select ENSP00000355180.3:p.Arg647Gln
ENST00000361866.7:c.1940G>A ENSP00000355180.3:p.Arg647Gln
ENST00000463060.5:n.339G>A
ENST00000498614.5:n.174G>A
ENST00000612273.1:c.1934G>A ENSP00000483630.1:p.Arg645Gln
NM_001848.2:c.1940G>A , LRG_475t1:c.1940G>A NP_001839.2:p.Arg647Gln
NM_001848.3:c.1940G>A MANE Select NP_001839.2:p.Arg647Gln
Search 100 bp 5'
Search 100 bp 3'