Canonical Allele Identifier: CA2392433276
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs2077758765
gnomAD v4: 21-45988998-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45988998A>G , CM000683.2:g.45988998A>G GRCh38
NC_000021.8:g.47408912A>G , CM000683.1:g.47408912A>G GRCh37
NC_000021.7:g.46233340A>G NCBI36
NG_008674.1:g.12250A>G , LRG_475:g.12250A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.805-86A>G MANE Select ENSP00000355180.3:n.805-86A>G
ENST00000361866.7:c.805-86A>G ENSP00000355180.3:n.805-86A>G
ENST00000612273.1:c.805-86A>G ENSP00000483630.1:n.805-86A>G
NM_001848.2:c.805-86A>G , LRG_475t1:c.805-86A>G NP_001839.2:n.805-86A>G
NM_001848.3:c.805-86A>G MANE Select NP_001839.2:n.805-86A>G
Search 100 bp 5'
Search 100 bp 3'