Canonical Allele Identifier: CA2392440364
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs2077842701
gnomAD v4: 21-46001205-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001205G>A , CM000683.2:g.46001205G>A GRCh38
NC_000021.8:g.47421119G>A , CM000683.1:g.47421119G>A GRCh37
NC_000021.7:g.46245547G>A NCBI36
NG_008674.1:g.24457G>A , LRG_475:g.24457G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000463060.6:n.222-48G>A
ENST00000361866.8:c.1823-48G>A MANE Select ENSP00000355180.3:n.1823-48G>A
ENST00000361866.7:c.1823-48G>A ENSP00000355180.3:n.1823-48G>A
ENST00000463060.5:n.222-48G>A
ENST00000498614.5:n.9G>A
ENST00000612273.1:c.1817-48G>A ENSP00000483630.1:n.1817-48G>A
NM_001848.2:c.1823-48G>A , LRG_475t1:c.1823-48G>A NP_001839.2:n.1823-48G>A
NM_001848.3:c.1823-48G>A MANE Select NP_001839.2:n.1823-48G>A
Search 100 bp 5'
Search 100 bp 3'