Canonical Allele Identifier: CA10069569
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1678369
ClinVar RCV Id: RCV002223592
dbSNP Id: rs184742939
ExAC: 21:47404411 G / A
gnomAD v2: 21-47404411-G-A
gnomAD v3: 21-45984497-G-A
gnomAD v4: 21-45984497-G-A
MyVariant Identifiers: chr21:g.47404411G>A (hg19) chr21:g.45984497G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984497G>A , CM000683.2:g.45984497G>A GRCh38
NC_000021.8:g.47404411G>A , CM000683.1:g.47404411G>A GRCh37
NC_000021.7:g.46228839G>A NCBI36
NG_008674.1:g.7749G>A , LRG_475:g.7749G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.428+28G>A MANE Select ENSP00000355180.3:n.428+28G>A
ENST00000361866.7:c.428+28G>A ENSP00000355180.3:n.428+28G>A
ENST00000612273.1:c.428+28G>A ENSP00000483630.1:n.428+28G>A
NM_001848.2:c.428+28G>A , LRG_475t1:c.428+28G>A NP_001839.2:n.428+28G>A
NM_001848.3:c.428+28G>A MANE Select NP_001839.2:n.428+28G>A
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