Canonical Allele Identifier: CA2392438084
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs2077813080
gnomAD v4: 21-45997606-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45997606C>T , CM000683.2:g.45997606C>T GRCh38
NC_000021.8:g.47417520C>T , CM000683.1:g.47417520C>T GRCh37
NC_000021.7:g.46241948C>T NCBI36
NG_008674.1:g.20858C>T , LRG_475:g.20858C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000683550.1:n.237-94C>T
ENST00000361866.8:c.1462-94C>T MANE Select ENSP00000355180.3:n.1462-94C>T
ENST00000361866.7:c.1462-94C>T ENSP00000355180.3:n.1462-94C>T
ENST00000612273.1:c.1462-94C>T ENSP00000483630.1:n.1462-94C>T
NM_001848.2:c.1462-94C>T , LRG_475t1:c.1462-94C>T NP_001839.2:n.1462-94C>T
NM_001848.3:c.1462-94C>T MANE Select NP_001839.2:n.1462-94C>T
Search 100 bp 5'
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