Canonical Allele Identifier: CA10070347
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs574373469
ExAC: 21:47417619 C / T
gnomAD v2: 21-47417619-C-T
gnomAD v3: 21-45997705-C-T
gnomAD v4: 21-45997705-C-T
MyVariant Identifiers: chr21:g.47417619C>T (hg19) chr21:g.45997705C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45997705C>T , CM000683.2:g.45997705C>T GRCh38
NC_000021.8:g.47417619C>T , CM000683.1:g.47417619C>T GRCh37
NC_000021.7:g.46242047C>T NCBI36
NG_008674.1:g.20957C>T , LRG_475:g.20957C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000683550.1:n.242C>T
ENST00000361866.8:c.1467C>T MANE Select ENSP00000355180.3:p.Ala489=
ENST00000361866.7:c.1467C>T ENSP00000355180.3:p.Ala489=
ENST00000612273.1:c.1467C>T ENSP00000483630.1:p.Ala489=
NM_001848.2:c.1467C>T , LRG_475t1:c.1467C>T NP_001839.2:p.Ala489=
NM_001848.3:c.1467C>T MANE Select NP_001839.2:p.Ala489=
Search 100 bp 5'
Search 100 bp 3'