Canonical Allele Identifier: CA10069562
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285632
ClinVar RCV Id: RCV000314929 RCV001088542
dbSNP Id: rs144282452
ExAC: 21:47404379 G / C
gnomAD v2: 21-47404379-G-C
gnomAD v3: 21-45984465-G-C
gnomAD v4: 21-45984465-G-C
MyVariant Identifiers: chr21:g.47404379G>C (hg19) chr21:g.45984465G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984465G>C , CM000683.2:g.45984465G>C GRCh38
NC_000021.8:g.47404379G>C , CM000683.1:g.47404379G>C GRCh37
NC_000021.7:g.46228807G>C NCBI36
NG_008674.1:g.7717G>C , LRG_475:g.7717G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.424G>C MANE Select ENSP00000355180.3:p.Val142Leu
ENST00000361866.7:c.424G>C ENSP00000355180.3:p.Val142Leu
ENST00000612273.1:c.424G>C ENSP00000483630.1:p.Val142Leu
NM_001848.2:c.424G>C , LRG_475t1:c.424G>C NP_001839.2:p.Val142Leu
NM_001848.3:c.424G>C MANE Select NP_001839.2:p.Val142Leu
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