Canonical Allele Identifier: CA2591412343
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs1323315030
gnomAD v3: 21-46001198-G-A
gnomAD v4: 21-46001198-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001198G>A , CM000683.2:g.46001198G>A GRCh38
NC_000021.8:g.47421112G>A , CM000683.1:g.47421112G>A GRCh37
NC_000021.7:g.46245540G>A NCBI36
NG_008674.1:g.24450G>A , LRG_475:g.24450G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.221+47G>A
ENST00000361866.8:c.1823-55G>A MANE Select ENSP00000355180.3:n.1823-55G>A
ENST00000361866.7:c.1823-55G>A ENSP00000355180.3:n.1823-55G>A
ENST00000463060.5:n.221+47G>A
ENST00000498614.5:n.2G>A
ENST00000612273.1:c.1817-55G>A ENSP00000483630.1:n.1817-55G>A
NM_001848.2:c.1823-55G>A , LRG_475t1:c.1823-55G>A NP_001839.2:n.1823-55G>A
NM_001848.3:c.1823-55G>A MANE Select NP_001839.2:n.1823-55G>A
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