Canonical Allele Identifier: CA10070036
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 281934
ClinVar RCV Id: RCV000319412 RCV000794729 RCV002519102
dbSNP Id: rs186775751
ExAC: 21:47410699 T / C
gnomAD v2: 21-47410699-T-C
gnomAD v3: 21-45990785-T-C
gnomAD v4: 21-45990785-T-C
MyVariant Identifiers: chr21:g.47410699T>C (hg19) chr21:g.45990785T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990785T>C , CM000683.2:g.45990785T>C GRCh38
NC_000021.8:g.47410699T>C , CM000683.1:g.47410699T>C GRCh37
NC_000021.7:g.46235127T>C NCBI36
NG_008674.1:g.14037T>C , LRG_475:g.14037T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.1015T>C MANE Select ENSP00000355180.3:p.Tyr339His
ENST00000361866.7:c.1015T>C ENSP00000355180.3:p.Tyr339His
ENST00000612273.1:c.1015T>C ENSP00000483630.1:p.Tyr339His
NM_001848.2:c.1015T>C , LRG_475t1:c.1015T>C NP_001839.2:p.Tyr339His
NM_001848.3:c.1015T>C MANE Select NP_001839.2:p.Tyr339His
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