Canonical Allele Identifier: CA10604415
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283178
ClinVar RCV Id: RCV000289318 RCV000653576
dbSNP Id: rs886042572
gnomAD v2: 21-47421252-C-G
gnomAD v3: 21-46001338-C-G
gnomAD v4: 21-46001338-C-G
MyVariant Identifiers: chr21:g.47421252C>G (hg19) chr21:g.46001338C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001338C>G , CM000683.2:g.46001338C>G GRCh38
NC_000021.8:g.47421252C>G , CM000683.1:g.47421252C>G GRCh37
NC_000021.7:g.46245680C>G NCBI36
NG_008674.1:g.24590C>G , LRG_475:g.24590C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.307C>G
ENST00000612273.2:c.34C>G
ENST00000682634.1:c.34C>G
ENST00000361866.8:c.1908C>G MANE Select ENSP00000355180.3:p.Asp636Glu
ENST00000361866.7:c.1908C>G ENSP00000355180.3:p.Asp636Glu
ENST00000463060.5:n.307C>G
ENST00000498614.5:n.142C>G
ENST00000612273.1:c.1902C>G ENSP00000483630.1:p.Asp634Glu
NM_001848.2:c.1908C>G , LRG_475t1:c.1908C>G NP_001839.2:p.Asp636Glu
NM_001848.3:c.1908C>G MANE Select NP_001839.2:p.Asp636Glu
Search 100 bp 5'
Search 100 bp 3'