Canonical Allele Identifier: CA321964855
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 679180
ClinVar RCV Id: RCV000838823
dbSNP Id: rs1980981
gnomAD v2: 21-47410626-T-G
gnomAD v3: 21-45990712-T-G
gnomAD v4: 21-45990712-T-G
MyVariant Identifiers: chr21:g.47410626T>G (hg19) chr21:g.45990712T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990712T>G , CM000683.2:g.45990712T>G GRCh38
NC_000021.8:g.47410626T>G , CM000683.1:g.47410626T>G GRCh37
NC_000021.7:g.46235054T>G NCBI36
NG_008674.1:g.13964T>G , LRG_475:g.13964T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.1003-61T>G MANE Select ENSP00000355180.3:n.1003-61T>G
ENST00000361866.7:c.1003-61T>G ENSP00000355180.3:n.1003-61T>G
ENST00000612273.1:c.1003-61T>G ENSP00000483630.1:n.1003-61T>G
NM_001848.2:c.1003-61T>G , LRG_475t1:c.1003-61T>G NP_001839.2:n.1003-61T>G
NM_001848.3:c.1003-61T>G MANE Select NP_001839.2:n.1003-61T>G
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