Canonical Allele Identifier: CA410519607
Gene: COL6A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.47407413T>C (hg19) chr21:g.45987499T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45987499T>C , CM000683.2:g.45987499T>C GRCh38
NC_000021.8:g.47407413T>C , CM000683.1:g.47407413T>C GRCh37
NC_000021.7:g.46231841T>C NCBI36
NG_008674.1:g.10751T>C , LRG_475:g.10751T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.739T>C MANE Select ENSP00000355180.3:p.Cys247Arg
ENST00000361866.7:c.739T>C ENSP00000355180.3:p.Cys247Arg
ENST00000492851.1:n.391T>C
ENST00000612273.1:c.739T>C ENSP00000483630.1:p.Cys247Arg
NM_001848.2:c.739T>C , LRG_475t1:c.739T>C NP_001839.2:p.Cys247Arg
NM_001848.3:c.739T>C MANE Select NP_001839.2:p.Cys247Arg
Search 100 bp 5'
Search 100 bp 3'