Canonical Allele Identifier: CA410515712
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2711951
ClinVar RCV Id: RCV003518192
dbSNP Id: rs748810004
gnomAD v2: 21-47404190-C-T
gnomAD v3: 21-45984276-C-T
gnomAD v4: 21-45984276-C-T
COSMIC: COSM1201946
MyVariant Identifiers: chr21:g.47404190C>T (hg19) chr21:g.45984276C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984276C>T , CM000683.2:g.45984276C>T GRCh38
NC_000021.8:g.47404190C>T , CM000683.1:g.47404190C>T GRCh37
NC_000021.7:g.46228618C>T NCBI36
NG_008674.1:g.7528C>T , LRG_475:g.7528C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.235C>T MANE Select ENSP00000355180.3:p.Arg79Cys
ENST00000361866.7:c.235C>T ENSP00000355180.3:p.Arg79Cys
ENST00000612273.1:c.235C>T ENSP00000483630.1:p.Arg79Cys
NM_001848.2:c.235C>T , LRG_475t1:c.235C>T NP_001839.2:p.Arg79Cys
NM_001848.3:c.235C>T MANE Select NP_001839.2:p.Arg79Cys
Search 100 bp 5'
Search 100 bp 3'