Canonical Allele Identifier: CA638177778
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs1569517934
gnomAD v2: 21-47407488-C-A
MyVariant Identifiers: chr21:g.47407488_47407489delinsAT (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45987574C>A , CM000683.2:g.45987574C>A GRCh38
NC_000021.8:g.47407488C>A , CM000683.1:g.47407488C>A GRCh37
NC_000021.7:g.46231916C>A NCBI36
NG_008674.1:g.10826C>A , LRG_475:g.10826C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.760-36C>A MANE Select ENSP00000355180.3:n.760-36C>A
ENST00000361866.7:c.760-36C>A ENSP00000355180.3:n.760-36C>A
ENST00000492851.1:n.412-36C>A
ENST00000612273.1:c.760-36C>A ENSP00000483630.1:n.760-36C>A
NM_001848.2:c.760-36C>A , LRG_475t1:c.760-36C>A NP_001839.2:n.760-36C>A
NM_001848.3:c.760-36C>A MANE Select NP_001839.2:n.760-36C>A
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