Canonical Allele Identifier: CA410521467
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 959176
ClinVar RCV Id: RCV001232473
dbSNP Id: rs201093313
gnomAD v2: 21-47409014-C-G
gnomAD v4: 21-45989100-C-G
MyVariant Identifiers: chr21:g.47409014C>G (hg19) chr21:g.45989100C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45989100C>G , CM000683.2:g.45989100C>G GRCh38
NC_000021.8:g.47409014C>G , CM000683.1:g.47409014C>G GRCh37
NC_000021.7:g.46233442C>G NCBI36
NG_008674.1:g.12352C>G , LRG_475:g.12352C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.821C>G MANE Select ENSP00000355180.3:p.Pro274Arg
ENST00000361866.7:c.821C>G ENSP00000355180.3:p.Pro274Arg
ENST00000612273.1:c.821C>G ENSP00000483630.1:p.Pro274Arg
NM_001848.2:c.821C>G , LRG_475t1:c.821C>G NP_001839.2:p.Pro274Arg
NM_001848.3:c.821C>G MANE Select NP_001839.2:p.Pro274Arg
Search 100 bp 5'
Search 100 bp 3'