Canonical Allele Identifier: CA10070349
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 340319
ClinVar RCV Id: RCV000307727 RCV000434739 RCV000539187
dbSNP Id: rs117340427
ExAC: 21:47417627 C / T
gnomAD v2: 21-47417627-C-T
gnomAD v3: 21-45997713-C-T
gnomAD v4: 21-45997713-C-T
MyVariant Identifiers: chr21:g.47417627C>T (hg19) chr21:g.45997713C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45997713C>T , CM000683.2:g.45997713C>T GRCh38
NC_000021.8:g.47417627C>T , CM000683.1:g.47417627C>T GRCh37
NC_000021.7:g.46242055C>T NCBI36
NG_008674.1:g.20965C>T , LRG_475:g.20965C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000683550.1:n.250C>T
ENST00000361866.8:c.1475C>T MANE Select ENSP00000355180.3:p.Ala492Val
ENST00000361866.7:c.1475C>T ENSP00000355180.3:p.Ala492Val
ENST00000612273.1:c.1475C>T ENSP00000483630.1:p.Ala492Val
NM_001848.2:c.1475C>T , LRG_475t1:c.1475C>T NP_001839.2:p.Ala492Val
NM_001848.3:c.1475C>T MANE Select NP_001839.2:p.Ala492Val
Search 100 bp 5'
Search 100 bp 3'