Canonical Allele Identifier: CA638497630
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs1476218406
gnomAD v2: 21-47404140-C-G
gnomAD v4: 21-45984226-C-G
MyVariant Identifiers: chr21:g.47404140C>G (hg19) chr21:g.45984226C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984226C>G , CM000683.2:g.45984226C>G GRCh38
NC_000021.8:g.47404140C>G , CM000683.1:g.47404140C>G GRCh37
NC_000021.7:g.46228568C>G NCBI36
NG_008674.1:g.7478C>G , LRG_475:g.7478C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.228-43C>G MANE Select ENSP00000355180.3:n.228-43C>G
ENST00000361866.7:c.228-43C>G ENSP00000355180.3:n.228-43C>G
ENST00000612273.1:c.228-43C>G ENSP00000483630.1:n.228-43C>G
NM_001848.2:c.228-43C>G , LRG_475t1:c.228-43C>G NP_001839.2:n.228-43C>G
NM_001848.3:c.228-43C>G MANE Select NP_001839.2:n.228-43C>G
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