Canonical Allele Identifier: CA410522581
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 542991
ClinVar RCV Id: RCV000653577
dbSNP Id: rs1556425717

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990376A>G , CM000683.2:g.45990376A>G GRCh38
NC_000021.8:g.47410290A>G , CM000683.1:g.47410290A>G GRCh37
NC_000021.7:g.46234718A>G NCBI36
NG_008674.1:g.13628A>G , LRG_475:g.13628A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.958-2A>G MANE Select ENSP00000355180.3:n.958-2A>G
ENST00000361866.7:c.958-2A>G ENSP00000355180.3:n.958-2A>G
ENST00000612273.1:c.958-2A>G ENSP00000483630.1:n.958-2A>G
NM_001848.2:c.958-2A>G , LRG_475t1:c.958-2A>G NP_001839.2:n.958-2A>G
NM_001848.3:c.958-2A>G MANE Select NP_001839.2:n.958-2A>G