Canonical Allele Identifier: CA638176478
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs1267219842
gnomAD v2: 21-47403931-C-T
gnomAD v3: 21-45984017-C-T
gnomAD v4: 21-45984017-C-T
MyVariant Identifiers: chr21:g.47403931C>T (hg19) chr21:g.45984017C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984017C>T , CM000683.2:g.45984017C>T GRCh38
NC_000021.8:g.47403931C>T , CM000683.1:g.47403931C>T GRCh37
NC_000021.7:g.46228359C>T NCBI36
NG_008674.1:g.7269C>T , LRG_475:g.7269C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.228-252C>T MANE Select ENSP00000355180.3:n.228-252C>T
ENST00000361866.7:c.228-252C>T ENSP00000355180.3:n.228-252C>T
ENST00000612273.1:c.228-252C>T ENSP00000483630.1:n.228-252C>T
NM_001848.2:c.228-252C>T , LRG_475t1:c.228-252C>T NP_001839.2:n.228-252C>T
NM_001848.3:c.228-252C>T MANE Select NP_001839.2:n.228-252C>T
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